Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.F22L

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
2 papers
NM_001719.3
p.F22L
c.66C>G
Surrounding Variants
2 papers
NM_001719.3
p.F22L
c.66C>A
2 papers
NM_001719.3
p.F22L
c.64T>C
1 paper
NM_001719.3
p.R25C
c.73C>T
1 paper
NM_001719.3
p.P20insFs
c.58_59ins7
1 paper
NM_001719.3
p.A19T
c.55G>A
1 paper
NM_001719.3
p.W18G
c.52T>G
1 paper
NM_001719.3
p.L17L
c.51C>G
1 paper
NM_001719.3
p.D30H
c.88G>C
1 paper
NM_001719.3
p.D30N
c.88G>A
1 paper
NM_001719.3
p.D34H
c.100G>C
1 paper
NM_001719.3
p.P11T
c.31C>A
1 paper
NM_001719.3
p.A9insFs
c.26dupC
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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."