Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2B

ACVR2B

120 papers

RefSeq Summary

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a...

Pfam Domains

Activin_recpaa 26–116UCSCActivin types I and II receptor domain
Pkinaseaa 193–477UCSCProtein kinase domain

Gene Aliases

HGNC Name

activin A receptor type 2B

HGNC Alias Symbol

ActR-IIB

Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
12 papers
NM_001106.4
p.R40H
c.119G>A
5 papers
NM_001106.4
p.V494I
c.1480G>A
2 papers
NM_001106.4
p.G45D
c.134G>A
2 papers
NM_001106.4
p.A61T
c.181G>A
2 papers
NM_001106.4
p.R112C
c.334C>T
2 papers
NM_001106.4
p.P130L
c.389C>T
2 papers
NM_001106.4
p.V204L
c.610G>C
2 papers
NM_001106.4
p.K217R
c.650A>G
2 papers
NM_001106.4
p.R482W
c.1444C>T
1 paper
NM_001106.4
p.M1insFs
c.2_3insT
1 paper
NM_001106.4
p.T2_A3insT
c.4_8ins3
1 paper
NM_001106.4
p.T2P
c.4A>C
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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."