Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.C105fs

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.C105fs
c.313_314fs
Surrounding Variants
1 paper
NM_001616.5
p.C105S
c.313T>A
1 paper
NM_001616.5
p.C104*
c.312C>A
1 paper
NM_001616.5
p.C105S
c.314G>C
1 paper
NM_001616.5
p.E106K
c.316G>A
1 paper
NM_001616.5
p.E106*
c.316G>T
1 paper
NM_001616.5
p.E106V
c.317A>T
1 paper
NM_001616.5
p.C103W
c.309T>G
1 paper
NM_001616.5
p.G107C
c.319G>T
2 papers
NM_001616.5
p.C103fs
c.307_308fs
1 paper
NM_001616.5
p.F102L
c.306T>A
1 paper
NM_001616.5
p.F102L
c.306T>G
1 paper
NM_001616.5
p.F102L
c.304T>C
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