TAZ protein-altering variants in ExAC


The table below lists the TAZ protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 153640193 c.13G>T p.V5L missense 0.00006696
2. 153640198 c.18G>T p.K6N missense 0.00006114
3. 153648578 c.674C>T p.P225L missense 0.00005699
4. 153641865 c.331C>T p.H111Y missense 0.00004581
5. 153649243 c.779T>G p.V260G missense 0.00003611
6. 153640192 c.12C>A p.H4Q missense 0.00003451
7. 153648064 c.562G>A p.E188K missense 0.00003435
8. 153640200 c.20G>C p.W7S missense 0.00002956
9. 153640201 c.21G>T p.W7C missense 0.00002939
10. 153640202 c.22C>T p.P8S missense 0.00002893
11. 153641558 c.253C>T p.R85C missense 0.00002326
12. 153649048 c.751C>T p.R251W missense 0.00002281
13. 153648393 c.606G>C p.E202D missense 0.00002279
14. 153640447 c.134A>G p.H45R missense 0.00001537
15. 153642523 c.456G>C p.E152D missense 0.00001364
16. 153642509 c.442G>A p.G148R missense 0.00001306
17. 153642504 c.437G>T p.G146V missense 0.00001285
18. 153649338 c.874A>G p.R292G missense 0.00001264
19. 153642486 c.419_422delCAGG p.Arg142ThrfsTer41 frameshift 0.00001253
20. 153642474 c.407G>T p.G136V missense 0.00001239
21. 153649325 c.861C>A p.H287Q missense 0.00001217
22. 153649314 c.850C>T p.L284F missense 0.00001197
23. 153641559 c.254G>A p.R85H missense 0.00001163
24. 153649055 c.758G>A p.R253Q missense 0.00001141
25. 153649060 c.763G>A p.E255K missense 0.00001141
26. 153648571 c.667A>C p.N223H missense 0.00001140
27. 153648583 c.679T>C p.Y227H missense 0.00001140
28. 153648586 c.682T>C p.F228L missense 0.00001140
29. 153648561 c.657C>G p.D219E missense 0.00001140
30. 153648593 c.689G>A p.R230H missense 0.00001140
31. 153648415 c.628C>G p.L210V missense 0.00001139
32. 153648380 c.593G>A p.R198H missense 0.00001139

* 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.