Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.S76R

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
2 papers
NM_001202.6
p.S76R
c.228T>A
Surrounding Variants
1 paper
NM_001202.6
p.S76fs
c.226_227fs
2 papers
NM_001202.6
p.S76R
c.228T>G
1 paper
NM_001202.6
p.S76delFs
c.226_227delCT
2 papers
NM_001202.6
p.S76N
c.227G>A
3 papers
NM_001202.6
p.S76fs
c.226_227fs
1 paper
NM_001202.6
p.A77V
c.230C>T
1 paper
NM_001202.6
p.S76C
c.226A>T
2 papers
NM_001202.6
p.S76R
c.226A>C
1 paper
NM_001202.6
p.K75_S76insFs
c.225_226insAC
1 paper
NM_001202.6
p.V78F
c.232G>T
1 paper
NM_001202.6
p.K75R
c.224A>G
1 paper
NM_001202.6
p.S74R
c.222C>G
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