Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.N327delFs

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
2 papers
NM_001616.5
p.N327delFs
c.979_980delAA
Surrounding Variants
1 paper
NM_001616.5
p.S325R
c.975T>A
1 paper
NM_001616.5
p.S325R
c.975T>G
2 papers
NM_001616.5
p.N327insFs
c.979dupA
8 papers
NM_001616.5
p.N327delFs
c.979delA
1 paper
NM_001616.5
p.K326Fs
c.978delinsTAFs
1 paper
NM_001616.5
p.S325R
c.973A>C
1 paper
NM_001616.5
p.S325C
c.973A>T
1 paper
NM_001616.5
p.K324N
c.972A>C
1 paper
NM_001616.5
p.K324N
c.972A>T
1 paper
NM_001616.5
p.V328M
c.982G>A
1 paper
NM_001616.5
p.I323del1
c.967_969delATC
1 paper
NM_001616.5
p.L329P
c.986T>C
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."