CUL3 variants in ExAC

CUL3 gene summary
CUL3 variants in

The table below lists the CUL3 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. 225362478 c.1699G>A p.V567I missense 0.12798027●●●●●●
2. 225367675 c.1485+7T>G splice site 0.00065129●●●●●●
3. 225422367 c.264+9C>T splice site 0.00044274●●●●●●
4. 225346804 c.1843-9A>C splice site 0.00028358●●●●●●
5. 225379325 c.539+4A>G splice site 0.00023190●●●●●●
6. 225376142 c.812A>G p.K271R missense 0.00018125●●●●●●
7. 225367719 c.1448C>T p.T483M missense 0.00015653●●●●●●
8. 225365207 c.1486-3T>A splice site 0.00010724●●●●●●
9. 225379383 c.485G>A p.R162Q missense 0.00008243●●●●●●
10. 225360560 c.1831T>A p.Y611N missense 0.00007486●●●●●●
11. 225422503 c.137G>A p.R46H missense 0.00006687●●●●●●
12. 225371682 c.922A>C p.N308H missense 0.00005786●●●●●●
13. 225400236 c.378+9A>C splice site 0.00003758●●●●●●
14. 225449686 c.41C>A p.T14N missense 0.00003470●●●●●●
15. 225400352 c.271G>A p.E91K missense 0.00003406●●●●●●
16. 225367687 c.1480A>G p.T494A missense 0.00003296●●●●●●
17. 225449654 c.66+7C>T splice site 0.00003134●●●●●●
18. 225400238 c.378+7A>G splice site 0.00002802●●●●●●
19. 225378360 c.540-5G>A splice site 0.00002609●●●●●●
20. 225378348 c.547A>G p.I183V missense 0.00002523●●●●●●
21. 225371694 c.910A>G p.S304G missense 0.00002484●●●●●●
22. 225370797 c.1082A>G p.N361S missense 0.00002479●●●●●●
23. 225365200 c.1490C>T p.S497F missense 0.00002473●●●●●●
24. 225342933 c.2159A>G p.N720S missense 0.00002472●●●●●●
25. 225376187 c.767C>T p.T256M missense 0.00002471●●●●●●
26. 225368517 c.1229C>T p.T410I missense 0.00002213●●●●●●
27. 225368362 c.1377+7T>G splice site 0.00002114●●●●●●
28. 225378361 c.540-6C>T splice site 0.00001750●●●●●●
29. 225400346 c.277G>A p.V93I missense 0.00001695●●●●●●
30. 225400312 c.311C>T p.T104M missense 0.00001688●●●●●●
31. 225378237 c.654+4A>T splice site 0.00001685●●●●●●
32. 225370788 c.1091G>A p.R364H missense 0.00001652●●●●●●
33. 225339047 c.2222T>C p.I741T missense 0.00001650●●●●●●
34. 225342973 c.2119A>G p.I707V missense 0.00001648●●●●●●
35. 225367734 c.1433G>C p.S478T missense 0.00001648●●●●●●
36. 225346665 c.1973T>C p.I658T missense 0.00001648●●●●●●
37. 225367715 c.1452G>C p.M484I missense 0.00001648●●●●●●
38. 225365093 c.1597G>C p.E533Q missense 0.00001648●●●●●●
39. 225449710 c.17A>G p.K6R missense 0.00001452●●●●●●
40. 225368537 c.1209A>G splice site 0.00001265●●●●●●
41. 225376305 c.655-6T>C splice site 0.00001099●●●●●●
42. 225368381 c.1365A>G p.I455M missense 0.00001001●●●●●●
43. 225368483 c.1263T>G p.F421L missense 0.00000960●●●●●●
44. 225422369 c.264+7A>G splice site 0.00000933●●●●●●
45. 225422369 c.264+7A>T splice site 0.00000933●●●●●●
46. 225422371 c.264+5C>T splice site 0.00000926●●●●●●
47. 225368417 c.1329_1333delTAAAA p.Asn443LysfsTer4 frameshift 0.00000917●●●●●●
48. 225370853 c.1030-4T>C splice site 0.00000908●●●●●●
49. 225378363 c.540-8T>C splice site 0.00000880●●●●●●
50. 225400277 c.346A>G p.M116V missense 0.00000878●●●●●●
51. 225339095 c.2176-2A>G essential splice site 0.00000864●●●●●●
52. 225400298 c.325T>G p.W109G missense 0.00000857●●●●●●
53. 225400354 c.269G>A p.R90Q missense 0.00000855●●●●●●
54. 225339091 c.2178A>G splice site 0.00000851●●●●●●
55. 225378234 c.654+7C>T splice site 0.00000848●●●●●●
56. 225378235 c.654+6C>A splice site 0.00000846●●●●●●
57. 225400312 c.311C>G p.T104R missense 0.00000844●●●●●●
58. 225378237 c.654+4A>G splice site 0.00000842●●●●●●
59. 225371726 c.884-6T>A splice site 0.00000842●●●●●●
60. 225422420 c.220T>C p.Y74H missense 0.00000842●●●●●●
61. 225422453 c.187A>G p.T63A missense 0.00000837●●●●●●
62. 225422448 c.192G>A p.M64I missense 0.00000837●●●●●●
63. 225422477 c.163G>T p.E55X nonsense 0.00000836●●●●●●
64. 225422536 c.104A>G p.D35G missense 0.00000836●●●●●●
65. 225422504 c.136C>T p.R46C missense 0.00000836●●●●●●
66. 225422522 c.118G>T p.A40S missense 0.00000835●●●●●●
67. 225422519 c.121A>G p.I41V missense 0.00000835●●●●●●
68. 225346802 c.1843-7A>C splice site 0.00000834●●●●●●
69. 225343069 c.2030-7A>G splice site 0.00000833●●●●●●
70. 225343066 c.2030-4T>A splice site 0.00000832●●●●●●
71. 225376269 c.685A>T p.S229C missense 0.00000831●●●●●●
72. 225360565 c.1826A>G p.E609G missense 0.00000830●●●●●●
73. 225346787 c.1851G>T p.Q617H missense 0.00000829●●●●●●
74. 225376266 c.688G>A p.A230T missense 0.00000829●●●●●●
75. 225339074 c.2195C>T p.A732V missense 0.00000829●●●●●●
76. 225379328 c.539+1G>T essential splice site 0.00000828●●●●●●
77. 225370809 c.1070T>G p.L357R missense 0.00000828●●●●●●
78. 225362462 c.1707+8T>C splice site 0.00000828●●●●●●
79. 225376067 c.883+4A>G splice site 0.00000827●●●●●●
80. 225371574 c.1029+1G>C essential splice site 0.00000827●●●●●●
81. 225378275 c.620C>T p.A207V missense 0.00000827●●●●●●
82. 225378286 c.609_611delAGA p.Glu203del inframe 0.00000827●●●●●●
83. 225371679 c.925G>T p.G309C missense 0.00000826●●●●●●
84. 225376076 c.878C>T p.T293I missense 0.00000826●●●●●●
85. 225346771 c.1867C>A p.P623T missense 0.00000826●●●●●●
86. 225370789 c.1090C>T p.R364C missense 0.00000826●●●●●●
87. 225360583 c.1808T>C p.M603T missense 0.00000826●●●●●●
88. 225346773 c.1865T>C p.I622T missense 0.00000826●●●●●●
89. 225370785 c.1094T>G p.L365R missense 0.00000826●●●●●●
90. 225376247 c.707A>G p.K236R missense 0.00000825●●●●●●
91. 225370764 c.1115G>A p.G372D missense 0.00000825●●●●●●
92. 225379339 c.529G>T p.V177F missense 0.00000825●●●●●●
93. 225339039 c.2230C>T p.R744C missense 0.00000825●●●●●●
94. 225362559 c.1618T>G p.L540V missense 0.00000825●●●●●●
95. 225371627 c.977A>G p.K326R missense 0.00000825●●●●●●
96. 225365207 c.1486-3T>C splice site 0.00000825●●●●●●
97. 225371645 c.959A>G p.Y320C missense 0.00000825●●●●●●
98. 225365209 c.1486-5C>T splice site 0.00000825●●●●●●
99. 225362492 c.1685C>T p.T562I missense 0.00000824●●●●●●
100. 225342921 c.2171C>T p.A724V missense 0.00000824●●●●●●
101. 225365073 c.1610+7C>A splice site 0.00000824●●●●●●
102. 225338984 c.2285A>G p.K762R missense 0.00000824●●●●●●
103. 225367717 c.1450_1452delATG p.Met484del inframe 0.00000824●●●●●●
104. 225365111 c.1579G>C p.A527P missense 0.00000824●●●●●●
105. 225346672 c.1966G>T p.G656C missense 0.00000824●●●●●●
106. 225379396 c.472A>G p.R158G missense 0.00000824●●●●●●
107. 225367678 c.1485+4A>G splice site 0.00000824●●●●●●
108. 225376155 c.799G>C p.E267Q missense 0.00000824●●●●●●
109. 225362517 c.1660A>G p.M554V missense 0.00000824●●●●●●
110. 225342975 c.2117C>G p.A706G missense 0.00000824●●●●●●
111. 225365074 c.1610+6T>C splice site 0.00000824●●●●●●
112. 225376097 c.857A>G p.H286R missense 0.00000824●●●●●●
113. 225338987 c.2282G>T p.R761L missense 0.00000824●●●●●●
114. 225367704 c.1463G>A p.R488K missense 0.00000824●●●●●●
115. 225365188 c.1502T>G p.V501G missense 0.00000824●●●●●●
116. 225379383 c.485G>C p.R162P missense 0.00000824●●●●●●
117. 225376193 c.761A>C p.K254T missense 0.00000824●●●●●●
118. 225376175 c.779T>C p.I260T missense 0.00000824●●●●●●
119. 225365102 c.1588C>T p.H530Y missense 0.00000824●●●●●●
120. 225367749 c.1418T>C p.M473T missense 0.00000824●●●●●●
121. 225362540 c.1637G>A p.R546Q missense 0.00000824●●●●●●
122. 225376133 c.821A>G p.K274R missense 0.00000824●●●●●●
123. 225338987 c.2282G>A p.R761H missense 0.00000824●●●●●●
124. 225343000 c.2092G>A p.D698N missense 0.00000824●●●●●●
125. 225376176 c.778A>G p.I260V missense 0.00000824●●●●●●
126. 225376220 c.734T>C p.I245T missense 0.00000824●●●●●●
127. 225342936 c.2156A>G p.H719R missense 0.00000824●●●●●●
128. 225343011 c.2081_2082delAA p.Lys694SerfsTer8 frameshift 0.00000824●●●●●●
129. 225367767 c.1400C>T p.T467M missense 0.00000824●●●●●●
130. 225379384 c.484C>T p.R162W missense 0.00000824●●●●●●
131. 225346671 c.1967G>A p.G656D missense 0.00000824●●●●●●
132. 225338988 c.2281C>T p.R761C 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.