Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.M296V

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.M296V
c.886A>G
Surrounding Variants
2 papers
NM_001616.5
p.E294K
c.880G>A
1 paper
NM_001616.5
p.E294*
c.880G>T
1 paper
NM_001616.5
p.A293S
c.877G>T
1 paper
NM_001616.5
p.I292M
c.876T>G
1 paper
NM_001616.5
p.H291N
c.871C>A
1 paper
NM_001616.5
p.H291D
c.871C>G
1 paper
NM_001616.5
p.C290insFs
c.869_870insT
1 paper
NM_001616.5
p.E288G
c.863A>G
1 paper
NM_001616.5
p.E288V
c.863A>T
1 paper
NM_001616.5
p.E288_L289insC
c.862_866ins3
1 paper
NM_001616.5
p.E288*
c.862G>T
1 paper
NM_001616.5
p.I307L
c.919A>C
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