Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A

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
1–12 of 414 variants
41 papers
NM_001616.5
p.K435delFs
c.1303delA
29 papers
NM_001616.5
p.K437fs
c.1309_1310fs
25 papers
NM_001616.5
p.K437fs
c.1309_1310fs
19 papers
NM_001616.5
p.K435fs
c.1303_1304fs
9 papers
NM_001616.5
p.D96fs
c.286_287fs
9 papers
NM_001616.5
p.K315N
c.945A>C
9 papers
NM_001616.5
p.K315N
c.945A>T
8 papers
NM_001616.5
p.K95delFs
c.285delA
8 papers
NM_001616.5
p.N327delFs
c.979delA
8 papers
NM_001616.5
p.K435insFs
c.1303_1304insA
6 papers
NM_001616.5
p.E93fs
c.277_278fs
6 papers
NM_001616.5
p.D177E
c.531C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."