GCKR truncating variants in ExAC

GCKR gene summary
GCKR variants in

The table below lists the GCKR truncating 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. 27730169 c.1134_1135insA p.T379Nfs*66 frameshift 0.00116139●●●●●●
2. 27745372 c.1618C>T p.R540X nonsense 0.00088165●●●●●●
3. 27746184 c.1756G>T p.E586X nonsense 0.00062027●●●●●●
4. 27726415 c.679C>T p.R227X nonsense 0.00039628●●●●●●
5. 27722312 c.544_545delCT p.S183Cfs*292 frameshift 0.00018120●●●●●●
6. 27730107 c.1072C>T p.R358X nonsense 0.00016473●●●●●●
7. 27741745 c.1513_1514delAT p.M505Vfs*6 frameshift 0.00014003●●●●●●
8. 27729753 c.1066+1G>A essential splice site 0.00009062●●●●●●
9. 27741782 c.1550G>A p.W517X nonsense 0.00006591●●●●●●
10. 27745339 c.1585C>T p.Q529X nonsense 0.00005769●●●●●●
11. 27745351 c.1597C>T p.R533X nonsense 0.00005769●●●●●●
12. 27720112 c.62_65delTGTC p.Ser22GlyfsTer15 frameshift 0.00004942●●●●●●
13. 27729379 c.901C>T p.R301X nonsense 0.00003295●●●●●●
14. 27720201 c.151C>T p.R51X nonsense 0.00003295●●●●●●
15. 27726454 c.718C>T p.Q240X nonsense 0.00002485●●●●●●
16. 27729414 c.936_939delGATT p.Ile313ProfsTer3 frameshift 0.00002471●●●●●●
17. 27719832 c.60+1G>A essential splice site 0.00001652●●●●●●
18. 27721130 c.294_295insG p.Leu101AlafsTer22 frameshift 0.00001649●●●●●●
19. 27741806 c.1572+2T>C essential splice site 0.00001649●●●●●●
20. 27720483 c.271C>T p.Q91X nonsense 0.00001648●●●●●●
21. 27729392 c.914_915insGACC p.Tyr307AspfsTer51 frameshift 0.00001648●●●●●●
22. 27746305 c.1877G>T p.Ter626LeuextTer44 nonsense 0.00000835●●●●●●
23. 27746306 c.1878A>T p.Ter626CysextTer44 nonsense 0.00000835●●●●●●
24. 27726436 c.700C>T p.Gln234Ter nonsense 0.00000826●●●●●●
25. 27720499 c.285+2T>G essential splice site 0.00000825●●●●●●
26. 27721191 c.354+1G>A essential splice site 0.00000825●●●●●●
27. 27720263 c.213C>G p.Y71X nonsense 0.00000825●●●●●●
28. 27745325 c.1573-2A>G essential splice site 0.00000824●●●●●●
29. 27722076 c.495+1G>T essential splice site 0.00000824●●●●●●
30. 27728583 c.751-2A>G essential splice site 0.00000824●●●●●●
31. 27728674 c.840_841delTG p.Val281GlyfsTer19 frameshift 0.00000824●●●●●●
32. 27741701 c.1469_1470insT p.Thr491TyrfsTer9 frameshift 0.00000824●●●●●●
33. 27720177 c.127delA p.Ala44GlnfsTer10 frameshift 0.00000824●●●●●●
34. 27720486 c.274G>T p.E92X nonsense 0.00000824●●●●●●
35. 27729673 c.987_988insGTGTACCT p.V333Cfs*18 frameshift 0.00000824●●●●●●
36. 27721590 c.355-1G>A essential splice site 0.00000824●●●●●●
37. 27720427 c.217-2A>G essential splice site 0.00000824●●●●●●
38. 27731079 c.1383G>A p.W461X nonsense 0.00000824●●●●●●
39. 27745325 c.1573-2A>T essential splice site 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.