Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2B
Variant:p.R40S

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.R40S
c.118C>A
Surrounding Variants
12 papers
NM_001106.4
p.R40H
c.119G>A
1 paper
NM_001106.4
p.E39K
c.115G>A
1 paper
NM_001106.4
p.T41I
c.122C>T
1 paper
NM_001106.4
p.L38R
c.113T>G
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.A34D
c.101C>A
1 paper
NM_001106.4
p.N33S
c.98A>G
1 paper
NM_001106.4
p.Y31C
c.92A>G
1 paper
NM_001106.4
p.Y31F
c.92A>T
1 paper
NM_001106.4
p.T26_R27insFs
c.78_79insTT
1 paper
NM_001106.4
p.C59R
c.175T>C
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