Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.N208_V209insFs

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.N208_V209insFs
c.624_625insA
Surrounding Variants
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.T210A
c.628A>G
3 papers
NM_001202.6
p.H207D
c.619C>G
1 paper
NM_001202.6
p.T210delFs
c.629delG
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.V205G
c.614T>G
2 papers
NM_001202.6
p.V205A
c.614T>C
2 papers
NM_001202.6
p.E213*
c.637G>T
1 paper
NM_001202.6
p.T214P
c.640A>C
1 paper
NM_001202.6
p.T202K
c.605C>A
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