Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.D277Y

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.D277Y
c.829G>T
Surrounding Variants
1 paper
NM_001616.5
p.F278I
c.832T>A
1 paper
NM_001616.5
p.L275L
c.825A>G
1 paper
NM_001616.5
p.S276_K280del5
c.826_839del15
1 paper
NM_001616.5
p.L275P
c.824T>C
1 paper
NM_001616.5
p.L279V
c.835C>G
1 paper
NM_001616.5
p.L279F
c.835C>T
1 paper
NM_001616.5
p.L279R
c.836T>G
1 paper
NM_001616.5
p.G273V
c.818G>T
2 papers
NM_001278580.2
p.A173T
c.517G>A
NM_001616.5
p.A281T
c.841G>A
1 paper
NM_001616.5
p.N282I
c.845A>T
1 paper
NM_001616.5
p.E288_L289insC
c.862_866ins3
1 paper
NM_001616.5
p.E288*
c.862G>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."