Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2B
Variant:p.N83fs

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
Selected Variant
1 paper
NM_001106.4
p.N83fs
c.247_248fs
Surrounding Variants
1 paper
NM_001106.4
p.D80A
c.239A>C
1 paper
NM_001106.4
p.L79P
c.236T>C
1 paper
NM_001106.4
p.G76G
c.228C>G
1 paper
NM_001106.4
p.E71A
c.212A>C
1 paper
NM_001106.4
p.R64H
c.191G>A
1 paper
NM_001106.4
p.A61A
c.183C>A
2 papers
NM_001106.4
p.A61T
c.181G>A
1 paper
NM_001106.4
p.C59R
c.175T>C
2 papers
NM_001106.4
p.G45D
c.134G>A
1 paper
NM_001106.4
p.G45delins
c.134_135delinsAT
1 paper
NM_001106.4
p.T41I
c.122C>T
12 papers
NM_001106.4
p.R40H
c.119G>A
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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."