Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.E196*

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.E196*
c.586G>T
Surrounding Variants
1 paper
NM_001616.5
p.E196G
c.587A>G
1 paper
NM_001616.5
p.V197M
c.589G>A
1 paper
NM_001616.5
p.L194_R200delFs
c.582_600del19
2 papers
NM_001616.5
p.K198N
c.594A>C
2 papers
NM_001616.5
p.K198N
c.594A>T
1 paper
NM_001616.5
p.A199V
c.596C>T
1 paper
NM_001616.5
p.R200M
c.599G>T
1 paper
NM_001616.5
p.G201_G204del0
c.602_610del9
1 paper
NM_001616.5
p.G201E
c.602G>A
2 papers
NM_001616.5
p.R202fs
c.604_605fs
1 paper
NM_001616.5
p.R202fs
c.604_605fs
2 papers
NM_001616.5
p.R202I
c.605G>T
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