Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.M1_I2insFs

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.M1_I2insFs
c.3_4insA
Surrounding Variants
1 paper
NM_001202.6
p.M1I
c.3G>A
2 papers
NM_001202.6
p.M1R
c.2T>G
2 papers
NM_001202.6
p.M1T
c.2T>C
1 paper
NM_001202.6
p.M1K
c.2T>A
1 paper
NM_001202.6
p.I2F
c.4A>T
1 paper
NM_001202.6
p.M1L
c.1A>T
1 paper
NM_001202.6
p.M1V
c.1A>G
1 paper
NM_001202.6
p.M1L
c.1A>C
1 paper
NM_001202.6
p.G4R
c.10G>C
1 paper
NM_001202.6
p.G4A
c.11G>C
1 paper
NM_001202.6
p.G4D
c.11G>A
3 papers
NM_001202.6
p.R6*
c.16C>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."