Varaico: Literature-Extracted Genetic Variants

Gene:BMP3
Variant:p.V457A

BMP3

74 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

TGF_betaaa 369–471UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 3

HGNC Previous Name

bone morphogenetic protein 3 (osteogenic)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001201.5
p.V457A
c.1370T>C
Surrounding Variants
2 papers
NM_001201.5
p.F450Y
c.1349T>A
1 paper
NM_001201.5
p.A470T
c.1408G>A
1 paper
NM_001201.5
p.A470P
c.1408G>C
1 paper
NM_001201.5
p.S444A
c.1330T>G
1 paper
NM_001201.5
p.P435S
c.1303C>T
1 paper
NM_001201.5
p.V426_G427insFs
c.1278_1279insT
2 papers
NM_001201.5
p.A402P
c.1204G>C
1 paper
NM_001201.5
p.Y397*
c.1191T>A
1 paper
NM_001201.5
p.Y397*
c.1191T>G
1 paper
NM_001201.5
p.S393F
c.1178C>T
1 paper
NM_001201.5
p.G383D
c.1148G>A
1 paper
NM_001201.5
p.R368P
c.1103G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."