Varaico: Literature-Extracted Genetic Variants

Gene:BMP3
Variant:p.G383D

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
1 paper
NM_001201.5
p.G383D
c.1148G>A
Surrounding Variants
1 paper
NM_001201.5
p.S393F
c.1178C>T
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.R368P
c.1103G>C
1 paper
NM_001201.5
p.P367R
c.1100C>G
2 papers
NM_001201.5
p.A402P
c.1204G>C
1 paper
NM_001201.5
p.L356M
c.1066C>A
1 paper
NM_001201.5
p.T348M
c.1043C>T
1 paper
NM_001201.5
p.T323P
c.967A>C
1 paper
NM_001201.5
p.P296S
c.886C>T
1 paper
NM_001201.5
p.P296_L297delFs
c.887_891del5
1 paper
NM_001201.5
p.P296_L297delFs
c.886_890del5
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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."