Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.L330F

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.L330F
c.990G>C
Surrounding Variants
1 paper
NM_001616.5
p.L330F
c.990G>T
1 paper
NM_001616.5
p.L329P
c.986T>C
1 paper
NM_001616.5
p.N332_N333insFs
c.996_997insTC
1 paper
NM_001616.5
p.V328M
c.982G>A
2 papers
NM_001616.5
p.T335_A336del2
c.1003_1007del6
1 paper
NM_001616.5
p.T335fs
c.1003_1004fs
1 paper
NM_001616.5
p.K326Fs
c.978delinsTAFs
1 paper
NM_001616.5
p.T335_A336del1
c.1004_1006delCAG
1 paper
NM_001616.5
p.T335_C337delFs
c.1004_1010del7
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
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."