Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2B
Variant:p.P130L

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
2 papers
NM_001106.4
p.P130L
c.389C>T
Surrounding Variants
1 paper
NM_001106.4
p.G148delFs
c.443delG
1 paper
NM_001106.4
p.L151H
c.452T>A
1 paper
NM_001106.4
p.R161W
c.481C>T
1 paper
NM_001106.4
p.E174G
c.521A>G
1 paper
NM_001106.4
p.P122delFs
c.365delC
1 paper
NM_001106.4
p.P117S
c.349C>T
2 papers
NM_001106.4
p.R112C
c.334C>T
1 paper
NM_001106.4
p.E111D
c.333A>C
1 paper
NM_001106.4
p.E111E
c.333A>G
1 paper
NM_001106.4
p.E111D
c.333A>T
1 paper
NM_001106.4
p.E111G
c.332A>G
1 paper
NM_001106.4
p.E111K
c.331G>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."