Varaico: Literature-Extracted Genetic Variants

Gene:BMP3
Variant:p.S254I

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.S254I
c.761G>T
Surrounding Variants
1 paper
NM_001201.5
p.S258N
c.773G>A
1 paper
NM_001201.5
p.A247V
c.740C>T
1 paper
NM_001201.5
p.Y243D
c.727T>G
2 papers
NM_001201.5
p.V270F
c.808G>T
1 paper
NM_001201.5
p.P271L
c.812C>T
1 paper
NM_001201.5
p.A280_L281del1
c.840_842delCCT
1 paper
NM_001201.5
p.R289C
c.865C>T
1 paper
NM_001201.5
p.P296_L297delFs
c.886_890del5
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.E211*
c.631G>T
3 papers
NM_001201.5
p.L205F
c.613C>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."