Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.G358G

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.G358G
c.1074A>C
Surrounding Variants
1 paper
NM_001616.5
p.Q359*
c.1075C>T
1 paper
NM_001616.5
p.T356S
c.1067C>G
1 paper
NM_001616.5
p.D355Y
c.1063G>T
1 paper
NM_001616.5
p.A353V
c.1058C>T
1 paper
NM_001616.5
p.K351R
c.1052A>G
1 paper
NM_001616.5
p.G350_A353del4
c.1048_1058del12
1 paper
NM_001616.5
p.A344V
c.1031C>T
1 paper
NM_001616.5
p.D340V
c.1019A>T
1 paper
NM_001616.5
p.A339D
c.1016C>A
1 paper
NM_001616.5
p.A339T
c.1015G>A
1 paper
NM_001616.5
p.T335fs
c.1003_1004fs
1 paper
NM_001616.5
p.T335_A336del1
c.1004_1006delCAG
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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."