Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.R118insFs

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.R118insFs
c.353_354insTG
Surrounding Variants
1 paper
NM_001202.6
p.V117V
c.351G>A
2 papers
NM_001202.6
p.S119fs
c.355_356fs
1 paper
NM_001202.6
p.V117G
c.350T>G
1 paper
NM_001202.6
p.V117M
c.349G>A
1 paper
NM_001202.6
p.S119fs
c.355_356fs
1 paper
NM_001202.6
p.S119R
c.357C>A
1 paper
NM_001202.6
p.S119delFs
c.357delG
1 paper
NM_001202.6
p.F120S
c.359T>C
1 paper
NM_001202.6
p.T116S
c.347C>G
1 paper
NM_001202.6
p.T116S
c.346A>T
1 paper
NM_001202.6
p.N115N
c.345C>T
9 papers
NM_001202.6
p.H121R
c.362A>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."