Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.Q98insFs

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.Q98insFs
c.293_294insC
Surrounding Variants
1 paper
NM_001202.6
p.Q98fs
c.292_293fs
1 paper
NM_001202.6
p.I99T
c.296T>C
1 paper
NM_001202.6
p.I99I
c.297C>T
1 paper
NM_001202.6
p.H100fs
c.298_299fs
1 paper
NM_001202.6
p.E96_E97insFs
c.288_289insC
1 paper
NM_001202.6
p.E96G
c.287A>G
1 paper
NM_001202.6
p.H100delFs
c.298delG
1 paper
NM_001202.6
p.E96*
c.286G>T
1 paper
NM_001202.6
p.E96K
c.286G>A
4 papers
NM_001202.6
p.S101delFs
c.301_302delCT
2 papers
NM_001202.6
p.T102A
c.304A>G
1 paper
NM_001202.6
p.T102I
c.305C>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."