Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.Y332Y

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.Y332Y
c.996C>T
Surrounding Variants
2 papers
NM_001202.6
p.A334V
c.1001C>T
3 papers
NM_001202.6
p.A334D
c.1001C>A
1 paper
NM_001202.6
p.F335Fs
c.1003delinsGAFs
1 paper
NM_001202.6
p.C337*
c.1011C>A
2 papers
NM_001202.6
p.W325C
c.975G>T
2 papers
NM_001202.6
p.W325C
c.975G>C
1 paper
NM_001202.6
p.P342_F343insG
c.1024_1028ins3
1 paper
NM_001202.6
p.P342L
c.1025C>T
1 paper
NM_001347913.2
p.W259*
c.777G>A
1 paper
NM_001347913.2
p.W259*
c.776G>A
1 paper
NM_001202.6
p.G321V
c.962G>T
1 paper
NM_001202.6
p.G321_W322insG
c.961_965ins3
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."