Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.N150K

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
9 papers
NM_001202.6
p.N150K
c.450C>A
Surrounding Variants
9 papers
NM_001202.6
p.N150K
c.450C>G
1 paper
NM_001202.6
p.E151K
c.451G>A
2 papers
NM_001202.6
p.N150delFs
c.449_450delGT
50 papers
NM_001202.6
p.V152A
c.455T>C
2 papers
NM_001202.6
p.E149K
c.445G>A
1 paper
NM_001202.6
p.P148L
c.443C>T
1 paper
NM_001202.6
p.P148H
c.443C>A
1 paper
NM_001202.6
p.S154F
c.461C>T
1 paper
NM_001202.6
p.S155A
c.463T>G
1 paper
NM_001202.6
p.S155F
c.464C>T
1 paper
NM_001202.6
p.A156V
c.467C>T
2 papers
NM_001202.6
p.A156insFs
c.467_468insT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."