Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.T214P

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.T214P
c.640A>C
Surrounding Variants
2 papers
NM_001202.6
p.E213*
c.637G>T
1 paper
NM_001202.6
p.D216N
c.646G>A
1 paper
NM_001202.6
p.D216_V217insFs
c.648_649insC
2 papers
NM_001202.6
p.R211W
c.631C>T
2 papers
NM_001202.6
p.R211_W212insA
c.631_635ins3
1 paper
NM_001202.6
p.T210delFs
c.629delG
1 paper
NM_001202.6
p.T210A
c.628A>G
2 papers
NM_001202.6
p.S218_P219insG
c.652_656ins3
1 paper
NM_001202.6
p.V209L
c.625G>T
1 paper
NM_001202.6
p.V209insFs
c.625_626insTG
1 paper
NM_001202.6
p.N208_V209insFs
c.624_625insA
1 paper
NM_001202.6
p.A220T
c.658G>A
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