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

* 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.