Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.T239N

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
1 paper
NM_001202.6
p.T239N
c.716C>A
Surrounding Variants
2 papers
NM_001202.6
p.I236_E237insAC
c.706_710ins6
1 paper
NM_001202.6
p.A235V
c.704C>T
2 papers
NM_001202.6
p.T244I
c.731C>T
1 paper
NM_001202.6
p.N231_G233del0
c.691_699del9
1 paper
NM_001202.6
p.R245P
c.734G>C
1 paper
NM_001202.6
p.R245Q
c.734G>A
1 paper
NM_001202.6
p.T244_R245del2
c.730_734del6
1 paper
NM_001202.6
p.H247R
c.740A>G
1 paper
NM_001202.6
p.H247P
c.740A>C
1 paper
NM_001202.6
p.G249fs
c.745_746fs
2 papers
NM_001202.6
p.G249delFs
c.746delC
19 papers
NM_001202.6
p.H251Y
c.751C>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."