Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.E93insFs

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.E93insFs
c.278_279insT
Surrounding Variants
11 papers
NM_001202.6
p.E93G
c.278A>G
3 papers
NM_001202.6
p.E93*
c.277G>T
1 paper
NM_001202.6
p.E93delFs
c.278delT
1 paper
NM_001202.6
p.G92G
c.276G>A
1 paper
NM_001202.6
p.R88_S91del0
c.262_273del12
15 papers
NM_001202.6
p.S91C
c.272C>G
1 paper
NM_001202.6
p.E96*
c.286G>T
1 paper
NM_001202.6
p.E96K
c.286G>A
1 paper
NM_001202.6
p.Q90Q
c.270G>A
1 paper
NM_001202.6
p.E96G
c.287A>G
1 paper
NM_001202.6
p.E96_E97insFs
c.288_289insC
1 paper
NM_001202.6
p.R88fs
c.262_263fs
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