Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.G40_H41del2

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.G40_H41del2
c.118_122del6
Surrounding Variants
1 paper
NM_001202.6
p.A42V
c.125C>T
1 paper
NM_001202.6
p.A42E
c.125C>A
1 paper
NM_001202.6
p.I38_A42delFs
c.112_124del13
1 paper
NM_001202.6
p.A42S
c.124G>T
6 papers
NM_001202.6
p.A42P
c.124G>C
1 paper
NM_001202.6
p.G43E
c.128G>A
4 papers
NM_001202.6
p.G44*
c.130G>T
NM_001347912.1
p.G91*
c.271G>T
1 paper
NM_001202.6
p.G44R
c.130G>A
1 paper
NM_001202.6
p.G44V
c.131G>T
1 paper
NM_001202.6
p.G40insFs
c.118_119insAC
1 paper
NM_001202.6
p.Q39K
c.115C>A
1 paper
NM_001202.6
p.G44_R45delFs
c.131_134del4
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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."