Varaico: Literature-Extracted Genetic Variants

Gene:BMP8B
Variant:p.Y307Y

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
1 paper
NM_001720.5
p.Y307Y
c.921C>T
Surrounding Variants
1 paper
NM_001720.5
p.V308L
c.922G>C
2 papers
NM_001720.5
p.E305K
c.913G>A
1 paper
NM_001720.5
p.R303W
c.907C>T
2 papers
NM_001720.5
p.L313L
c.939C>T
1 paper
NM_001720.5
p.G297S
c.889G>A
1 paper
NM_001720.5
p.H296H
c.888C>T
2 papers
NM_001720.5
p.H293R
c.878A>G
1 paper
NM_001720.5
p.L316_D317Splc
c.949-6C>T
1 paper
NM_001720.5
p.I320insFs
c.958_959insTG
1 paper
NM_001720.5
p.A321T
c.961G>A
2 papers
NM_001720.5
p.S326*
c.977C>A
1 paper
NM_001720.5
p.D339H
c.1015G>C
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