Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.R256R

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.R256R
c.768A>G
Surrounding Variants
2 papers
NM_001202.6
p.R256*
c.766C>T
1 paper
NM_001202.6
p.R256G
c.766C>G
1 paper
NM_001202.6
p.Q260insFs
c.778_779insA
1 paper
NM_001202.6
p.R253G
c.757A>G
2 papers
NM_001202.6
p.G261E
c.782G>A
19 papers
NM_001202.6
p.H251Y
c.751C>T
2 papers
NM_001202.6
p.G249delFs
c.746delC
1 paper
NM_001202.6
p.G249fs
c.745_746fs
2 papers
NM_001202.6
p.N264_W265insFs
c.792_793insC
2 papers
NM_001202.6
p.W265*
c.794G>A
2 papers
NM_001202.6
p.W265*
c.795G>A
1 paper
NM_001202.6
p.H247R
c.740A>G
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