UBE2D4 missense variants in ExAC

UBE2D4 gene summary
UBE2D4 variants in

The table below lists the UBE2D4 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. 43978084 c.79G>A p.G27S missense 0.02065830●●●●●●
2. 43982449 c.113T>C p.M38T missense 0.00009066●●●●●●
3. 43990200 c.307C>G p.L103V missense 0.00007452●●●●●●
4. 43978037 c.32C>T p.T11I missense 0.00006589●●●●●●
5. 43988264 c.232A>G p.I78V missense 0.00004949●●●●●●
6. 43990227 c.334G>A p.D112N missense 0.00004122●●●●●●
7. 43978060 c.55G>A p.A19T missense 0.00004118●●●●●●
8. 43978039 c.34G>A p.D12N missense 0.00004118●●●●●●
9. 43990260 c.367A>G p.I123V missense 0.00003298●●●●●●
10. 43988301 c.269G>A p.R90Q missense 0.00003296●●●●●●
11. 43990281 c.388G>A p.D130N missense 0.00002478●●●●●●
12. 43990239 c.346G>T p.D116Y missense 0.00002473●●●●●●
13. 43988300 c.268C>T p.R90W missense 0.00002472●●●●●●
14. 43992280 c.430A>G p.K144E missense 0.00001652●●●●●●
15. 43990222 c.329T>G p.L110R missense 0.00001649●●●●●●
16. 43988280 c.248G>A p.S83N missense 0.00001648●●●●●●
17. 43990239 c.346G>A p.D116N missense 0.00001648●●●●●●
18. 43982587 c.155T>C p.L52P missense 0.00001647●●●●●●
19. 43978052 c.47A>G p.D16G missense 0.00001647●●●●●●
20. 43978079 c.74C>T p.P25L missense 0.00001647●●●●●●
21. 43966136 c.5C>A p.A2E missense 0.00001309●●●●●●
22. 43988251 c.219T>G p.I73M missense 0.00000827●●●●●●
23. 43988253 c.221A>T p.Y74F missense 0.00000826●●●●●●
24. 43992281 c.431A>C p.K144T missense 0.00000826●●●●●●
25. 43988327 c.295G>A p.V99M missense 0.00000826●●●●●●
26. 43988253 c.221A>G p.Y74C missense 0.00000826●●●●●●
27. 43990206 c.313T>C p.S105P missense 0.00000826●●●●●●
28. 43988265 c.233T>C p.I78T missense 0.00000825●●●●●●
29. 43990272 c.379T>C p.Y127H missense 0.00000825●●●●●●
30. 43988267 c.235A>T p.N79Y missense 0.00000825●●●●●●
31. 43990261 c.368T>A p.I123K missense 0.00000824●●●●●●
32. 43988307 c.275A>T p.Q92L missense 0.00000824●●●●●●
33. 43978091 c.86A>T p.D29V missense 0.00000824●●●●●●
34. 43988286 c.254G>T p.C85F missense 0.00000824●●●●●●
35. 43978078 c.73C>A p.P25T missense 0.00000824●●●●●●
36. 43982455 c.119C>T p.P40L missense 0.00000824●●●●●●
37. 43988288 c.256C>T p.L86F missense 0.00000824●●●●●●
38. 43988274 c.242A>G p.N81S missense 0.00000824●●●●●●
39. 43978073 c.68C>T p.A23V missense 0.00000824●●●●●●
40. 43988304 c.272C>A p.S91Y missense 0.00000824●●●●●●
41. 43978088 c.83A>G p.D28G missense 0.00000824●●●●●●
42. 43978057 c.52C>T p.P18S 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.