Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2B
Variant:p.L209F

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.L209F
c.625C>T
Surrounding Variants
2 papers
NM_001106.4
p.V204L
c.610G>C
2 papers
NM_001106.4
p.K217R
c.650A>G
1 paper
NM_001106.4
p.E194K
c.580G>A
1 paper
NM_001106.4
p.Q222_D223Splc
c.666+5G>A
1 paper
NM_001106.4
p.G186D
c.557G>A
1 paper
NM_001106.4
p.S182P
c.544T>C
1 paper
NM_001106.4
p.P181A
c.541C>G
1 paper
NM_001106.4
p.E174G
c.521A>G
1 paper
NM_001106.4
p.R161W
c.481C>T
1 paper
NM_001106.4
p.L151H
c.452T>A
1 paper
NM_001106.4
p.G148delFs
c.443delG
2 papers
NM_001106.4
p.P130L
c.389C>T
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