Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.Q210E

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.Q210E
c.628C>G
Surrounding Variants
1 paper
NM_001616.5
p.Q210R
c.629A>G
1 paper
NM_001616.5
p.A209delFs
c.625delG
1 paper
NM_001616.5
p.N213D
c.637A>G
1 paper
NM_001616.5
p.W207fs
c.619_620fs
1 paper
NM_001616.5
p.E214_Y215delFs
c.640_644del5
4 papers
NM_001616.5
p.E214K
c.640G>A
1 paper
NM_001616.5
p.E214*
c.640G>T
1 paper
NM_001616.5
p.G204V
c.611G>T
1 paper
NM_001616.5
p.A217S
c.649G>T
1 paper
NM_001616.5
p.R202S
c.606A>C
1 paper
NM_001616.5
p.R202S
c.606A>T
2 papers
NM_001616.5
p.R202I
c.605G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."