Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.R287H

BMP4

511 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

TGFb_propeptideaa 44–275UCSCTGF-beta propeptide
TGF_betaaa 307–407UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 4

HGNC Previous Symbol

BMP2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_001202.6
p.R287H
c.860G>A
Surrounding Variants
1 paper
NM_001202.6
p.R288_R289insC
c.862_866ins3
1 paper
NM_001202.6
p.R286L
c.857G>T
1 paper
NM_001202.6
p.R288P
c.863G>C
1 paper
NM_001202.6
p.R288Q
c.863G>A
6 papers
NM_001202.6
p.R286*
c.856C>T
1 paper
NM_001202.6
p.A290insFs
c.869_870insT
1 paper
NM_001202.6
p.A283D
c.848C>A
1 paper
NM_001202.6
p.R292C
c.874C>T
1 paper
NM_001202.6
p.S293R
c.877A>C
1 paper
NM_001202.6
p.S293_P294insC
c.877_881ins3
2 papers
NM_001202.6
p.H297Y
c.889C>T
1 paper
NM_001202.6
p.V273_H277ins1
c.818_829dup12
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