Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2B
Variant:p.N486S

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.N486S
c.1457A>G
Surrounding Variants
1 paper
NM_001106.4
p.N486N
c.1458C>T
2 papers
NM_001106.4
p.R482W
c.1444C>T
1 paper
NM_001106.4
p.D491N
c.1471G>A
1 paper
NM_001106.4
p.D491H
c.1471G>C
1 paper
NM_001106.4
p.L493F
c.1477C>T
5 papers
NM_001106.4
p.V494I
c.1480G>A
1 paper
NM_001106.4
p.A467T
c.1399G>A
1 paper
NM_001106.4
p.P506T
c.1516C>A
1 paper
NM_001106.4
p.E466D
c.1398G>C
1 paper
NM_001106.4
p.E466D
c.1398G>T
1 paper
NM_001106.4
p.P448_G449Splc
c.1344+7G>T
1 paper
NM_001106.4
p.P448L
c.1343C>T
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