Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.K437E

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
1 paper
NM_001616.5
p.K437E
c.1309A>G
Surrounding Variants
25 papers
NM_001616.5
p.K437fs
c.1309_1310fs
29 papers
NM_001616.5
p.K437fs
c.1309_1310fs
3 papers
NM_001616.5
p.R438fs
c.1312_1313fs
3 papers
NM_001616.5
p.R438fs
c.1312_1313fs
19 papers
NM_001616.5
p.K435fs
c.1303_1304fs
2 papers
NM_001616.5
p.K435*
c.1303A>T
1 paper
NM_001616.5
p.P439H
c.1316C>A
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
41 papers
NM_001616.5
p.K435delFs
c.1303delA
4 papers
NM_001616.5
p.K437delFs
c.1309_1310delAA
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