Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.R173W

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.R173W
c.517A>T
Surrounding Variants
2 papers
NM_001202.6
p.R173R
c.517A>C
1 paper
NM_001202.6
p.W171insFs
c.512_513insGC
1 paper
NM_001202.6
p.G174insFs
c.521dupG
1 paper
NM_001202.6
p.F175fs
c.523_524fs
1 paper
NM_001202.6
p.F175L
c.525C>G
1 paper
NM_001202.6
p.D170A
c.509A>C
1 paper
NM_001202.6
p.H176Q
c.528C>A
1 paper
NM_001202.6
p.R177H
c.530G>A
2 papers
NM_001202.6
p.G168A
c.503G>C
1 paper
NM_001202.6
p.G168insFs
c.502_503insT
3 papers
NM_001202.6
p.G168R
c.502G>C
1 paper
NM_001202.6
p.N179S
c.536A>G
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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."