Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.L198P

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
3 papers
NM_001719.3
p.L198P
c.593T>C
Surrounding Variants
2 papers
NM_001719.3
p.L198F
c.592C>T
2 papers
NM_001719.3
p.Q199Q
c.597G>A
2 papers
NM_001719.3
p.G203S
c.607G>A
1 paper
NM_001719.3
p.S193R
c.579C>G
1 paper
NM_001719.3
p.S193R
c.579C>A
1 paper
NM_001719.3
p.S193R
c.577A>C
1 paper
NM_001719.3
p.R191P
c.572G>C
1 paper
NM_001719.3
p.T189M
c.566C>T
1 paper
NM_001719.3
p.E183*
c.547G>T
1 paper
NM_001719.3
p.R182W
c.544C>T
1 paper
NM_001719.3
p.R175L
c.524G>T
1 paper
NM_001719.3
p.A172G
c.515C>G
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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."