Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.S112G

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.S112G
c.334A>G
Surrounding Variants
1 paper
NM_001719.3
p.S112C
c.334A>T
1 paper
NM_001719.3
p.F111F
c.333C>T
1 paper
NM_001719.3
p.Q114fs
c.340_341fs
1 paper
NM_001719.3
p.A109T
c.325G>A
1 paper
NM_001719.3
p.P117S
c.349C>T
2 papers
NM_001719.3
p.P117R
c.350C>G
1 paper
NM_001719.3
p.L118V
c.352C>G
1 paper
NM_001719.3
p.P106A
c.316C>G
1 paper
NM_001719.3
p.L118L
c.354G>A
1 paper
NM_001719.3
p.S104Y
c.311C>A
1 paper
NM_001719.3
p.S104P
c.310T>C
1 paper
NM_001719.3
p.D123insFs
c.368_369insT
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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."