Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.Q255*

BMP7

167 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 35–280UCSCTGF-beta propeptide
TGF_betaaa 329–430UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 7

HGNC Alias Symbol

OP-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001719.3
p.Q255*
c.763C>T
Surrounding Variants
1 paper
NM_001719.3
p.S256delFs
c.768delG
1 paper
NM_001719.3
p.A262V
c.785C>T
1 paper
NM_001719.3
p.G269E
c.806G>A
1 paper
NM_001719.3
p.P275P
c.825C>T
1 paper
NM_001719.3
p.K282K
c.846G>A
1 paper
NM_001719.3
p.A283D
c.848C>A
1 paper
NM_001719.3
p.V286A
c.857T>C
2 papers
NM_001719.3
p.R289C
c.865C>T
2 papers
NM_001719.3
p.R289H
c.866G>A
1 paper
NM_001719.3
p.Q298*
c.892C>T
1 paper
NM_001719.3
p.R299G
c.895C>G
1 paper
NM_001719.3
p.R299H
c.896G>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."