Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.S312S

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.S312S
c.936G>C
Surrounding Variants
2 papers
NM_001202.6
p.S312L
c.935C>T
1 paper
NM_001202.6
p.L313fs
c.937_938fs
1 paper
NM_001202.6
p.R310P
c.929G>C
3 papers
NM_001202.6
p.R309W
c.925C>T
1 paper
NM_001202.6
p.C308W
c.924C>G
1 paper
NM_001202.6
p.N307insFs
c.919_920insC
1 paper
NM_001202.6
p.S318S
c.954C>T
1 paper
NM_001202.6
p.D319N
c.955G>A
2 papers
NM_001202.6
p.K306_N307insAG
c.916_920ins6
1 paper
NM_001202.6
p.G321_W322insG
c.961_965ins3
1 paper
NM_001202.6
p.G321V
c.962G>T
1 paper
NM_001347913.2
p.W259*
c.776G>A
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