Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.L441*

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
2 papers
NM_001616.5
p.L441*
c.1322T>A
Surrounding Variants
1 paper
NM_001616.5
p.L441*
c.1322T>G
1 paper
NM_001616.5
p.V440_L441insFs
c.1320_1321insTC
1 paper
NM_001616.5
p.V440fs
c.1318_1319fs
1 paper
NM_001616.5
p.L441delFs
c.1322delT
3 papers
NM_001616.5
p.Y444del1
c.1330_1331delTAT
1 paper
NM_001616.5
p.P439H
c.1316C>A
3 papers
NM_001616.5
p.R438fs
c.1312_1313fs
3 papers
NM_001616.5
p.R438fs
c.1312_1313fs
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.K447*
c.1339A>T
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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."