GCKR missense variants in ExAC

GCKR gene summary
GCKR variants in

The table below lists the GCKR missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 27730940 c.1337T>C p.L446P missense 0.64285007●●●●●●
2. 27745373 c.1619G>A p.R540Q missense 0.00430104●●●●●●
3. 27721143 c.307G>A p.V103M missense 0.00228295●●●●●●
4. 27726437 c.701A>C p.Q234P missense 0.00207243●●●●●●
5. 27720442 c.230A>G p.E77G missense 0.00193585●●●●●●
6. 27746196 c.1768C>T p.H590Y missense 0.00147132●●●●●●
7. 27720456 c.244A>G p.T82A missense 0.00061784●●●●●●
8. 27726416 c.680G>A p.R227Q missense 0.00038793●●●●●●
9. 27745393 c.1639C>A p.P547T missense 0.00025540●●●●●●
10. 27720202 c.152G>A p.R51Q missense 0.00025535●●●●●●
11. 27720440 c.228C>A p.S76R missense 0.00021418●●●●●●
12. 27741665 c.1433G>A p.R478H missense 0.00018945●●●●●●
13. 27741787 c.1555G>A p.A519T missense 0.00017302●●●●●●
14. 27741783 c.1551G>T p.W517C missense 0.00016477●●●●●●
15. 27729397 c.919T>G p.Y307D missense 0.00016475●●●●●●
16. 27721631 c.395C>T p.P132L missense 0.00015653●●●●●●
17. 27729412 c.934A>G p.K312E missense 0.00015652●●●●●●
18. 27728609 c.775C>T p.R259W missense 0.00014828●●●●●●
19. 27726392 c.656T>C p.I219T missense 0.00014088●●●●●●
20. 27730551 c.1147C>A p.P383T missense 0.00013183●●●●●●
21. 27720451 c.239T>C p.L80P missense 0.00012356●●●●●●
22. 27729382 c.904G>A p.A302T missense 0.00011533●●●●●●
23. 27720177 c.127A>G p.K43E missense 0.00011532●●●●●●
24. 27729368 c.890G>A p.R297Q missense 0.00010711●●●●●●
25. 27728600 c.766G>A p.G256S missense 0.00010709●●●●●●
26. 27722273 c.505G>A p.G169R missense 0.00010707●●●●●●
27. 27722316 c.548C>T p.S183F missense 0.00009884●●●●●●
28. 27726476 c.740C>T p.P247L missense 0.00009293●●●●●●
29. 27719812 c.41C>T p.P14L missense 0.00009073●●●●●●
30. 27729683 c.997G>T p.V333F missense 0.00009060●●●●●●
31. 27719788 c.17G>A p.R6Q missense 0.00008241●●●●●●
32. 27728610 c.776G>A p.R259Q missense 0.00008238●●●●●●
33. 27728588 c.754G>A p.E252K missense 0.00008238●●●●●●
34. 27721186 c.350T>A p.M117K missense 0.00007420●●●●●●
35. 27720483 c.271C>A p.Q91K missense 0.00007416●●●●●●
36. 27720441 c.229G>A p.E77K missense 0.00007414●●●●●●
37. 27746229 c.1801G>A p.V601I missense 0.00006609●●●●●●
38. 27745328 c.1574G>A p.R525Q missense 0.00006594●●●●●●
39. 27721156 c.320G>T p.G107V missense 0.00006592●●●●●●
40. 27724002 c.550G>T p.A184S missense 0.00006589●●●●●●
41. 27724062 c.610G>A p.V204I missense 0.00006589●●●●●●
42. 27746176 c.1748C>T p.S583L missense 0.00005792●●●●●●
43. 27729365 c.887T>G p.L296W missense 0.00005768●●●●●●
44. 27741743 c.1511A>G p.H504R missense 0.00005766●●●●●●
45. 27719797 c.26A>G p.H9R missense 0.00004945●●●●●●
46. 27721171 c.335G>A p.R112Q missense 0.00004945●●●●●●
47. 27728703 c.869G>A p.R290K missense 0.00004944●●●●●●
48. 27745412 c.1658G>A p.R553Q missense 0.00004943●●●●●●
49. 27730117 c.1082G>A p.R361H missense 0.00004942●●●●●●
50. 27720222 c.172G>A p.A58T missense 0.00004942●●●●●●
51. 27720121 c.71A>G p.Y24C missense 0.00004942●●●●●●
52. 27746199 c.1771C>G p.L591V missense 0.00004132●●●●●●
53. 27720486 c.274G>A p.E92K missense 0.00004121●●●●●●
54. 27721626 c.390G>T p.Q130H missense 0.00004119●●●●●●
55. 27741784 c.1552C>T p.R518W missense 0.00004119●●●●●●
56. 27720460 c.248T>C p.M83T missense 0.00004119●●●●●●
57. 27741664 c.1432C>T p.R478C missense 0.00004118●●●●●●
58. 27729674 c.988G>A p.V330M missense 0.00004118●●●●●●
59. 27741740 c.1508A>G p.N503S missense 0.00004118●●●●●●
60. 27726484 c.748G>A p.G250R missense 0.00003454●●●●●●
61. 27746298 c.1870G>A p.V624I missense 0.00003333●●●●●●
62. 27746169 c.1741C>T p.R581W missense 0.00003313●●●●●●
63. 27730847 c.1244A>G p.N415S missense 0.00003310●●●●●●
64. 27730642 c.1238A>G p.D413G missense 0.00003301●●●●●●
65. 27745327 c.1573C>T p.R525W missense 0.00003297●●●●●●
66. 27745330 c.1576T>G p.F526V missense 0.00003297●●●●●●
67. 27741785 c.1553G>A p.R518Q missense 0.00003296●●●●●●
68. 27729407 c.929G>A p.S310N missense 0.00003295●●●●●●
69. 27741758 c.1526G>A p.R509Q missense 0.00003295●●●●●●
70. 27728679 c.845A>T p.D282V missense 0.00003295●●●●●●
71. 27728609 c.775C>G p.R259G missense 0.00003295●●●●●●
72. 27728585 c.751C>T p.P251S missense 0.00003295●●●●●●
73. 27746148 c.1720G>A p.A574T missense 0.00002490●●●●●●
74. 27719785 c.14A>G p.K5R missense 0.00002473●●●●●●
75. 27721150 c.314G>A p.S105N missense 0.00002472●●●●●●
76. 27721603 c.367C>G p.Q123E missense 0.00002472●●●●●●
77. 27720160 c.110T>A p.L37Q missense 0.00002471●●●●●●
78. 27728666 c.832C>G p.H278D missense 0.00002471●●●●●●
79. 27729740 c.1054A>G p.T352A missense 0.00002471●●●●●●
80. 27720176 c.126C>A p.D42E missense 0.00002471●●●●●●
81. 27728591 c.757G>A p.G253S missense 0.00002471●●●●●●
82. 27720123 c.73G>A p.E25K missense 0.00002471●●●●●●
83. 27722055 c.475G>A p.G159R missense 0.00002471●●●●●●
84. 27741773 c.1541A>G p.K514R missense 0.00002471●●●●●●
85. 27720459 c.247A>G p.M83V missense 0.00002471●●●●●●
86. 27729380 c.902G>A p.R301Q missense 0.00002471●●●●●●
87. 27726387 c.651C>A p.D217E missense 0.00001661●●●●●●
88. 27746269 c.1841C>T p.A614V missense 0.00001658●●●●●●
89. 27746248 c.1820G>A p.G607E missense 0.00001654●●●●●●
90. 27746193 c.1765G>A p.A589T missense 0.00001653●●●●●●
91. 27746244 c.1816G>A p.A606T missense 0.00001653●●●●●●
92. 27746217 c.1789G>A p.V597I missense 0.00001652●●●●●●
93. 27746230 c.1802T>C p.V601A missense 0.00001652●●●●●●
94. 27726430 c.694C>T p.R232W missense 0.00001651●●●●●●
95. 27721189 c.353C>T p.S118L missense 0.00001649●●●●●●
96. 27719811 c.40C>T p.P14S missense 0.00001649●●●●●●
97. 27745456 c.1702G>A p.E568K missense 0.00001649●●●●●●
98. 27721657 c.421G>A p.G141S missense 0.00001648●●●●●●
99. 27730922 c.1319C>T p.T440I missense 0.00001648●●●●●●
100. 27730624 c.1220T>G p.V407G missense 0.00001648●●●●●●
101. 27745360 c.1606G>A p.E536K missense 0.00001648●●●●●●
102. 27719788 c.17G>C p.R6P missense 0.00001648●●●●●●
103. 27720454 c.242C>T p.T81I missense 0.00001648●●●●●●
104. 27728678 c.844G>C p.D282H missense 0.00001648●●●●●●
105. 27730913 c.1310C>T p.A437V missense 0.00001648●●●●●●
106. 27745403 c.1649A>G p.D550G missense 0.00001648●●●●●●
107. 27730608 c.1204G>A p.E402K missense 0.00001648●●●●●●
108. 27745411 c.1657C>T p.R553W missense 0.00001648●●●●●●
109. 27730915 c.1312C>T p.H438Y missense 0.00001648●●●●●●
110. 27730921 c.1318A>G p.T440A missense 0.00001648●●●●●●
111. 27729367 c.889C>T p.R297W missense 0.00001648●●●●●●
112. 27721610 c.374T>A p.M125K missense 0.00001648●●●●●●
113. 27745423 c.1669A>G p.I557V missense 0.00001648●●●●●●
114. 27720157 c.107C>T p.P36L missense 0.00001647●●●●●●
115. 27720184 c.134A>G p.D45G missense 0.00001647●●●●●●
116. 27724002 c.550G>C p.A184P missense 0.00001647●●●●●●
117. 27720169 c.119A>T p.D40V missense 0.00001647●●●●●●
118. 27729708 c.1022T>C p.I341T missense 0.00001647●●●●●●
119. 27722292 c.524T>G p.V175G missense 0.00001647●●●●●●
120. 27724050 c.598G>A p.V200I missense 0.00001647●●●●●●
121. 27741718 c.1486C>T p.L496F missense 0.00001647●●●●●●
122. 27741731 c.1499T>G p.I500S missense 0.00001647●●●●●●
123. 27726481 c.745A>G p.I249V missense 0.00000855●●●●●●
124. 27726476 c.740C>G p.P247R missense 0.00000845●●●●●●
125. 27726467 c.731T>A p.V244E missense 0.00000836●●●●●●
126. 27746292 c.1864C>T p.P622S missense 0.00000832●●●●●●
127. 27746281 c.1853A>G p.E618G missense 0.00000831●●●●●●
128. 27726385 c.649G>T p.D217Y missense 0.00000831●●●●●●
129. 27746140 c.1712T>C p.I571T missense 0.00000831●●●●●●
130. 27726386 c.650A>T p.D217V missense 0.00000831●●●●●●
131. 27746143 c.1715C>T p.P572L missense 0.00000831●●●●●●
132. 27746273 c.1845C>A p.D615E missense 0.00000829●●●●●●
133. 27746269 c.1841C>A p.A614E missense 0.00000829●●●●●●
134. 27746175 c.1747T>C p.S583P missense 0.00000828●●●●●●
135. 27730849 c.1246C>G p.L416V missense 0.00000827●●●●●●
136. 27746188 c.1760C>T p.A587V missense 0.00000827●●●●●●
137. 27746188 c.1760C>A p.A587D missense 0.00000827●●●●●●
138. 27746208 c.1780G>T p.A594S missense 0.00000826●●●●●●
139. 27726444 c.708G>A p.M236I missense 0.00000826●●●●●●
140. 27746221 c.1793G>A p.C598Y missense 0.00000826●●●●●●
141. 27726443 c.707T>G p.M236R missense 0.00000826●●●●●●
142. 27746225 c.1797G>C p.E599D missense 0.00000826●●●●●●
143. 27726431 c.695G>A p.R232Q missense 0.00000825●●●●●●
144. 27720496 c.284A>G p.K95R missense 0.00000825●●●●●●
145. 27720265 c.215A>C p.Q72P missense 0.00000825●●●●●●
146. 27726416 c.680G>T p.R227L missense 0.00000825●●●●●●
147. 27731108 c.1412A>C p.N471T missense 0.00000825●●●●●●
148. 27721122 c.286G>A p.E96K missense 0.00000825●●●●●●
149. 27726422 c.686T>C p.V229A missense 0.00000825●●●●●●
150. 27731086 c.1390C>T p.L464F missense 0.00000825●●●●●●
151. 27721131 c.295G>A p.G99R missense 0.00000825●●●●●●
152. 27730868 c.1265T>C p.I422T missense 0.00000825●●●●●●
153. 27719818 c.47C>T p.P16L missense 0.00000825●●●●●●
154. 27745348 c.1594G>A p.A532T missense 0.00000824●●●●●●
155. 27729747 c.1061G>C p.G354A missense 0.00000824●●●●●●
156. 27722044 c.464G>A p.S155N missense 0.00000824●●●●●●
157. 27741757 c.1525C>T p.R509W missense 0.00000824●●●●●●
158. 27745363 c.1609A>G p.S537G missense 0.00000824●●●●●●
159. 27721134 c.298G>A p.G100R missense 0.00000824●●●●●●
160. 27729388 c.910C>A p.Q304K missense 0.00000824●●●●●●
161. 27720480 c.268G>A p.V90I missense 0.00000824●●●●●●
162. 27728613 c.779T>C p.M260T missense 0.00000824●●●●●●
163. 27720174 c.124G>A p.D42N missense 0.00000824●●●●●●
164. 27729741 c.1055C>T p.T352I missense 0.00000824●●●●●●
165. 27719802 c.31A>G p.I11V missense 0.00000824●●●●●●
166. 27745359 c.1605C>G p.I535M missense 0.00000824●●●●●●
167. 27745448 c.1694A>G p.H565R missense 0.00000824●●●●●●
168. 27730161 c.1126G>A p.A376T missense 0.00000824●●●●●●
169. 27722300 c.532A>G p.I178V missense 0.00000824●●●●●●
170. 27741796 c.1564A>G p.M522V missense 0.00000824●●●●●●
171. 27729681 c.995T>C p.L332P missense 0.00000824●●●●●●
172. 27731065 c.1369A>G p.I457V missense 0.00000824●●●●●●
173. 27720201 c.151C>G p.R51G missense 0.00000824●●●●●●
174. 27731047 c.1351A>G p.K451E missense 0.00000824●●●●●●
175. 27728694 c.860C>G p.A287G missense 0.00000824●●●●●●
176. 27728676 c.842T>C p.V281A missense 0.00000824●●●●●●
177. 27730873 c.1270G>A p.E424K missense 0.00000824●●●●●●
178. 27741788 c.1556C>T p.A519V missense 0.00000824●●●●●●
179. 27730907 c.1304C>A p.A435D missense 0.00000824●●●●●●
180. 27720129 c.79G>A p.A27T missense 0.00000824●●●●●●
181. 27730606 c.1202C>T p.T401M missense 0.00000824●●●●●●
182. 27730549 c.1145G>A p.G382D missense 0.00000824●●●●●●
183. 27724039 c.587A>G p.N196S missense 0.00000824●●●●●●
184. 27745404 c.1650T>G p.D550E missense 0.00000824●●●●●●
185. 27730104 c.1069T>A p.F357I missense 0.00000824●●●●●●
186. 27722052 c.472C>A p.H158N missense 0.00000824●●●●●●
187. 27719772 c.1A>G p.Met1? missense 0.00000824●●●●●●
188. 27741697 c.1465G>C p.V489L missense 0.00000824●●●●●●
189. 27729391 c.913G>A p.V305M missense 0.00000824●●●●●●
190. 27741754 c.1522C>T p.L508F missense 0.00000824●●●●●●
191. 27730174 c.1139A>G p.N380S missense 0.00000824●●●●●●
192. 27730924 c.1321G>A p.V441M missense 0.00000824●●●●●●
193. 27728679 c.845A>G p.D282G missense 0.00000824●●●●●●
194. 27730632 c.1228T>G p.F410V missense 0.00000824●●●●●●
195. 27720210 c.160G>C p.G54R missense 0.00000824●●●●●●
196. 27745451 c.1697A>T p.E566V missense 0.00000824●●●●●●
197. 27730168 c.1133T>C p.L378P missense 0.00000824●●●●●●
198. 27722310 c.542G>T p.G181V missense 0.00000824●●●●●●
199. 27722291 c.523G>A p.V175I missense 0.00000824●●●●●●
200. 27719803 c.32T>G p.I11S missense 0.00000824●●●●●●
201. 27729687 c.1001G>A p.G334D missense 0.00000824●●●●●●
202. 27721634 c.398T>C p.L133P missense 0.00000824●●●●●●
203. 27730884 c.1281A>C p.K427N missense 0.00000824●●●●●●
204. 27729741 c.1055C>G p.T352S missense 0.00000824●●●●●●
205. 27721660 c.424G>A p.D142N missense 0.00000824●●●●●●
206. 27729368 c.890G>T p.R297L missense 0.00000824●●●●●●
207. 27729355 c.877C>A p.L293M missense 0.00000824●●●●●●
208. 27728618 c.784G>A p.G262S missense 0.00000824●●●●●●
209. 27730885 c.1282G>A p.E428K missense 0.00000824●●●●●●
210. 27728604 c.770C>T p.S257F missense 0.00000824●●●●●●
211. 27720432 c.220C>G p.L74V missense 0.00000824●●●●●●
212. 27730564 c.1160T>C p.F387S missense 0.00000824●●●●●●
213. 27730128 c.1093A>G p.I365V missense 0.00000824●●●●●●
214. 27745363 c.1609A>C p.S537R missense 0.00000824●●●●●●
215. 27730108 c.1073G>A p.R358Q missense 0.00000824●●●●●●
216. 27719792 c.21T>A p.F7L missense 0.00000824●●●●●●
217. 27745367 c.1613T>G p.L538R missense 0.00000824●●●●●●
218. 27741707 c.1475G>A p.G492D missense 0.00000824●●●●●●
219. 27729442 c.964A>G p.T322A missense 0.00000824●●●●●●
220. 27729436 c.958G>A p.V320I missense 0.00000824●●●●●●
221. 27731048 c.1352A>C p.K451T missense 0.00000824●●●●●●
222. 27730934 c.1331C>A p.T444N missense 0.00000824●●●●●●
223. 27720186 c.136G>T p.A46S missense 0.00000824●●●●●●
224. 27730173 c.1138A>C p.N380H missense 0.00000824●●●●●●
225. 27720142 c.92C>T p.T31M missense 0.00000824●●●●●●
226. 27722040 c.460G>A p.D154N missense 0.00000824●●●●●●
227. 27721637 c.401A>G p.Y134C missense 0.00000824●●●●●●
228. 27745345 c.1591A>G p.K531E missense 0.00000824●●●●●●
229. 27729746 c.1060G>C p.G354R missense 0.00000824●●●●●●
230. 27741663 c.1431G>T p.Q477H missense 0.00000824●●●●●●
231. 27721152 c.316G>A p.G106R missense 0.00000824●●●●●●
232. 27729356 c.878T>C p.L293P missense 0.00000824●●●●●●
233. 27728627 c.793G>C p.A265P missense 0.00000824●●●●●●
234. 27730588 c.1184C>G p.S395C missense 0.00000824●●●●●●
235. 27720171 c.121C>G p.L41V missense 0.00000824●●●●●●
236. 27730616 c.1212T>A p.D404E missense 0.00000824●●●●●●
237. 27745430 c.1676G>A p.C559Y missense 0.00000824●●●●●●
238. 27730161 c.1126G>T p.A376S missense 0.00000824●●●●●●
239. 27730116 c.1081C>T p.R361C missense 0.00000824●●●●●●
240. 27722264 c.496G>A p.V166M missense 0.00000824●●●●●●
241. 27719796 c.25C>T p.H9Y missense 0.00000824●●●●●●
242. 27729699 c.1013T>C p.L338P missense 0.00000824●●●●●●
243. 27729675 c.989T>G p.V330G missense 0.00000824●●●●●●
244. 27741671 c.1439T>A p.L480Q missense 0.00000824●●●●●●
245. 27731042 c.1346T>C p.L449P missense 0.00000824●●●●●●
246. 27728693 c.859G>A p.A287T missense 0.00000824●●●●●●
247. 27720495 c.283A>C p.K95Q missense 0.00000824●●●●●●
248. 27731059 c.1363T>C p.S455P missense 0.00000824●●●●●●
249. 27720191 c.141G>C p.E47D missense 0.00000824●●●●●●
250. 27741713 c.1481A>G p.H494R missense 0.00000824●●●●●●
251. 27720198 c.148G>A p.V50I missense 0.00000824●●●●●●
252. 27730898 c.1295A>G p.H432R missense 0.00000824●●●●●●
253. 27720235 c.185A>T p.Q62L missense 0.00000824●●●●●●
254. 27730175 c.1140C>G p.N380K missense 0.00000824●●●●●●
255. 27724011 c.559G>T p.V187L missense 0.00000824●●●●●●
256. 27720146 c.96G>T p.E32D missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.