Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.K435delFs

ACVR2A

324 papers

RefSeq Summary

This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The enco...

Pfam Domains

Pkinaseaa 195–481UCSCProtein kinase domain

Gene Aliases

HGNC Name

activin A receptor type 2A

HGNC Previous Symbol

ACVR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
41 papers
NM_001616.5
p.K435delFs
c.1303delA
Surrounding Variants
1 paper
NM_001616.5
p.H434Q
c.1302T>A
1 paper
NM_001616.5
p.H434Q
c.1302T>G
8 papers
NM_001616.5
p.K435insFs
c.1303_1304insA
4 papers
NM_001616.5
p.K437delFs
c.1309_1310delAA
19 papers
NM_001616.5
p.K435fs
c.1303_1304fs
2 papers
NM_001616.5
p.K435*
c.1303A>T
3 papers
NM_001616.5
p.H434fs
c.1300_1301fs
2 papers
NM_001616.5
p.V433del1
c.1297_1298delGTG
25 papers
NM_001616.5
p.K437fs
c.1309_1310fs
1 paper
NM_001616.5
p.K437E
c.1309A>G
29 papers
NM_001616.5
p.K437fs
c.1309_1310fs
1 paper
NM_001616.5
p.V432A
c.1295T>C
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