Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.G313A

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.G313A
c.938G>C
Surrounding Variants
1 paper
NM_001616.5
p.H314fs
c.940_941fs
1 paper
NM_001616.5
p.H314fs
c.940_941fs
1 paper
NM_001616.5
p.H314_K315delFs
c.941_945del5
1 paper
NM_001616.5
p.D312Y
c.934G>T
9 papers
NM_001616.5
p.K315N
c.945A>C
9 papers
NM_001616.5
p.K315N
c.945A>T
1 paper
NM_001616.5
p.A317T
c.949G>A
1 paper
NM_001616.5
p.G309V
c.926G>T
1 paper
NM_001616.5
p.I307L
c.919A>C
1 paper
NM_001616.5
p.I307L
c.919A>T
1 paper
NM_001616.5
p.H320Y
c.958C>T
1 paper
NM_001616.5
p.R321Splc
c.962+1G>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."