Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.Q345_D346Splc

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.Q345_D346Splc
c.1036-2A>G
Surrounding Variants
1 paper
NM_001719.3
p.A350S
c.1048G>T
1 paper
NM_001719.3
p.A350V
c.1049C>T
1 paper
NM_001719.3
p.G353V
c.1058G>T
1 paper
NM_001719.3
p.A356S
c.1066G>T
1 paper
NM_001719.3
p.E360_G361delFs
c.1079_1083del5
1 paper
NM_001719.3
p.E362E
c.1086G>A
2 papers
NM_001719.3
p.C363Y
c.1088G>A
1 paper
NM_001719.3
p.A364S
c.1090G>T
1 paper
NM_001719.3
p.N368_S369insT
c.1102_1106ins3
1 paper
NM_001719.3
p.T374A
c.1120A>G
1 paper
NM_001719.3
p.H376D
c.1126C>G
2 papers
NM_001719.3
p.I378I
c.1134C>T
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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."