TAZ protein-altering variants in ExAC

TAZ gene summary
TAZ variants in DCM

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 frequency▼Populations*
1. 153641865 c.331C>T p.H111Y missense 0.00004581●●●●●●
2. 153641558 c.253C>T p.R85C missense 0.00002326●●●●●●
3. 153648064 c.562G>A p.E188K missense 0.00003435●●●●●●
4. 153648380 c.593G>A p.R198H missense 0.00001139●●●●●●
5. 153648578 c.674C>T p.P225L missense 0.00005699●●●●●●
6. 153640192 c.12C>A p.H4Q missense 0.00003451●●●●●●
7. 153640193 c.13G>T p.V5L missense 0.00006696●●●●●●
8. 153640198 c.18G>T p.K6N missense 0.00006114●●●●●●
9. 153640200 c.20G>C p.W7S missense 0.00002956●●●●●●
10. 153640201 c.21G>T p.W7C missense 0.00002939●●●●●●
11. 153640202 c.22C>T p.P8S missense 0.00002893●●●●●●
12. 153640447 c.134A>G p.H45R missense 0.00001537●●●●●●
13. 153641559 c.254G>A p.R85H missense 0.00001163●●●●●●
14. 153642474 c.407G>T p.G136V missense 0.00001239●●●●●●
15. 153642504 c.437G>T p.G146V missense 0.00001285●●●●●●
16. 153642509 c.442G>A p.G148R missense 0.00001306●●●●●●
17. 153642523 c.456G>C p.E152D missense 0.00001364●●●●●●
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. 153648583 c.679T>C p.Y227H missense 0.00001140●●●●●●
23. 153648586 c.682T>C p.F228L missense 0.00001140●●●●●●
24. 153648593 c.689G>A p.R230H missense 0.00001140●●●●●●
25. 153649048 c.751C>T p.R251W missense 0.00002281●●●●●●
26. 153649055 c.758G>A p.R253Q missense 0.00001141●●●●●●
27. 153649060 c.763G>A p.E255K missense 0.00001141●●●●●●
28. 153649243 c.779T>G p.V260G missense 0.00003611●●●●●●
29. 153649314 c.850C>T p.L284F missense 0.00001197●●●●●●
30. 153649325 c.861C>A p.H287Q missense 0.00001217●●●●●●
31. 153649338 c.874A>G p.R292G missense 0.00001264●●●●●●
32. 153642486 c.419_422delCAGG p.Arg142ThrfsTer41 frameshift 0.00001253●●●●●●

* 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.