Varaico: Literature-Extracted Genetic Variants

Gene:BMP8B
Variant:p.R389H

BMP8B

71 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGFb_propeptideaa 28–251UCSCTGF-beta propeptide
TGF_betaaa 300–401UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 8b

HGNC Previous Symbol

BMP8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001720.5
p.R389H
c.1166G>A
Surrounding Variants
1 paper
NM_001720.5
p.R389C
c.1165C>T
1 paper
NM_001720.5
p.R392H
c.1175G>A
1 paper
NM_001720.5
p.Y380C
c.1139A>G
2 papers
NM_001720.5
p.G400S
c.1198G>A
1 paper
NM_001720.5
p.C401Y
c.1202G>A
1 paper
NM_001720.5
p.T370I
c.1109C>T
1 paper
NM_001720.5
p.A365V
c.1094C>T
1 paper
NM_001720.5
p.P359T
c.1075C>A
1 paper
NM_001720.5
p.L353_V354Splc
c.1059+504C>G
1 paper
NM_001720.5
p.S352F
c.1055C>T
2 papers
NM_001720.5
p.M342V
c.1024A>G
1 paper
NM_001720.5
p.D339H
c.1015G>C
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