Varaico: Literature-Extracted Genetic Variants

Gene:BMP3
Variant:p.A4A

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.A4A
c.12G>A
Surrounding Variants
1 paper
NM_001201.5
p.M1del1
c.1_2delATG
1 paper
NM_001201.5
p.Q51*
c.151C>T
1 paper
NM_001201.5
p.M60R
c.179T>G
1 paper
NM_001201.5
p.R62Q
c.185G>A
1 paper
NM_001201.5
p.L63F
c.187C>T
8 papers
NM_001201.5
p.Y67N
c.199T>A
1 paper
NM_001201.5
p.A72T
c.214G>A
1 paper
NM_001201.5
p.P76L
c.227C>T
1 paper
NM_001201.5
p.E93K
c.277G>A
1 paper
NM_001201.5
p.T96M
c.287C>T
1 paper
NM_001201.5
p.A102V
c.305C>T
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