Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2B
Variant:p.P448_G449Splc

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.P448_G449Splc
c.1344+7G>T
Surrounding Variants
1 paper
NM_001106.4
p.P448L
c.1343C>T
1 paper
NM_001106.4
p.L445insFs
c.1333_1334insC
1 paper
NM_001106.4
p.L427L
c.1281G>T
1 paper
NM_001106.4
p.S423L
c.1268C>T
1 paper
NM_001106.4
p.Y410C
c.1229A>G
1 paper
NM_001106.4
p.V407M
c.1219G>A
1 paper
NM_001106.4
p.P406L
c.1217C>T
1 paper
NM_001106.4
p.R383C
c.1147C>T
1 paper
NM_001106.4
p.A380V
c.1139C>T
1 paper
NM_001106.4
p.A380P
c.1138G>C
1 paper
NM_001106.4
p.R363W
c.1087C>T
1 paper
NM_001106.4
p.T361M
c.1082C>T
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