Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.A111T

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.A111T
c.331G>A
Surrounding Variants
1 paper
NM_001202.6
p.S112C
c.334A>T
1 paper
NM_001202.6
p.R109L
c.326G>T
1 paper
NM_001202.6
p.S112S
c.336C>T
1 paper
NM_001202.6
p.E108insFs
c.323dupA
1 paper
NM_001202.6
p.R113Q
c.338G>A
1 paper
NM_001202.6
p.A114S
c.340G>T
1 paper
NM_001202.6
p.E108_R109insG
c.322_326ins3
1 paper
NM_001202.6
p.E108Q
c.322G>C
1 paper
NM_001202.6
p.P107_E108insFs
c.321_322insG
1 paper
NM_001202.6
p.A114_N115insFs
c.342_343insG
1 paper
NM_001202.6
p.N115H
c.343A>C
1 paper
NM_001202.6
p.Y106*
c.318T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."