Varaico: Literature-Extracted Genetic Variants

Gene:BMP3

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
1–12 of 52 variants
8 papers
NM_001201.5
p.Y67N
c.199T>A
5 papers
NM_001201.5
p.R192Q
c.575G>A
3 papers
NM_001201.5
p.L205F
c.613C>T
2 papers
NM_001201.5
p.H191P
c.572A>C
2 papers
NM_001201.5
p.V270F
c.808G>T
2 papers
NM_001201.5
p.A402P
c.1204G>C
2 papers
NM_001201.5
p.F450Y
c.1349T>A
2 papers
NM_001201.5
p.V457A
c.1370T>C
1 paper
NM_001201.5
p.M1del1
c.1_2delATG
1 paper
NM_001201.5
p.A4A
c.12G>A
1 paper
NM_001201.5
p.Q51*
c.151C>T
1 paper
NM_001201.5
p.M60R
c.179T>G
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."