Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.S60P

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.S60P
c.178T>C
Surrounding Variants
1 paper
NM_001719.3
p.G63S
c.187G>A
1 paper
NM_001719.3
p.P65A
c.193C>G
1 paper
NM_001719.3
p.R52L
c.155G>T
1 paper
NM_001719.3
p.R52Q
c.155G>A
2 papers
NM_001719.3
p.P68S
c.202C>T
2 papers
NM_001719.3
p.R52W
c.154C>T
1 paper
NM_001719.3
p.P68A
c.202C>G
1 paper
NM_001719.3
p.E50D
c.150G>T
1 paper
NM_001719.3
p.H71N
c.211C>A
1 paper
NM_001719.3
p.S48N
c.143G>A
1 paper
NM_001719.3
p.R47insFs
c.140_141ins4
1 paper
NM_001719.3
p.Q73P
c.218A>C
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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."