Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.E403K

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.E403K
c.1207G>A
Surrounding Variants
1 paper
NM_001202.6
p.E403*
c.1207G>T
1 paper
NM_001202.6
p.M400I
c.1200G>A
1 paper
NM_001202.6
p.C407F
c.1220G>T
1 paper
NM_001202.6
p.N396fs
c.1186_1187fs
1 paper
NM_001202.6
p.N396delFs
c.1187delT
1 paper
NM_001202.6
p.*409W
c.1227A>G
1 paper
NM_001202.6
p.L394V
c.1180C>G
1 paper
NM_001202.6
p.L394M
c.1180C>A
1 paper
NM_001202.6
p.Y389Y
c.1167T>C
1 paper
NM_001202.6
p.D387_E388insC
c.1159_1163ins3
1 paper
NM_001202.6
p.I381V
c.1141A>G
1 paper
NM_001202.6
p.A380P
c.1138G>C
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