Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.R69C

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.R69C
c.205C>T
NM_001347912.1
p.R116C
c.346C>T
NM_001347915.2
p.R6C
c.16C>T
Surrounding Variants
2 papers
NM_001202.6
p.R68P
c.203G>C
3 papers
NM_001202.6
p.R68C
c.202C>T
2 papers
NM_001202.6
p.R70L
c.209G>T
2 papers
NM_001202.6
p.P71insFs
c.211_212insA
1 paper
NM_001202.6
p.P71L
c.212C>T
1 paper
NM_001202.6
p.G66R
c.196G>C
1 paper
NM_001202.6
p.G66R
c.196G>A
2 papers
NM_001202.6
p.P73insFs
c.218_219insG
2 papers
NM_001202.6
p.P73_S74insFs
c.219_220insG
1 paper
NM_001202.6
p.M64K
c.191T>A
1 paper
NM_001202.6
p.S74C
c.220A>T
1 paper
NM_001202.6
p.Q63delFs
c.189delC
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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."