Varaico: Literature-Extracted Genetic Variants

Gene:BMP5
Variant:p.R199W

BMP5

105 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 32–304UCSCTGF-beta propeptide
TGF_betaaa 352–453UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_021073.4
p.R199W
c.595C>T
Surrounding Variants
2 papers
NM_021073.4
p.R208*
c.622C>T
1 paper
NM_021073.4
p.R208L
c.623G>T
1 paper
NM_021073.4
p.N211I
c.632A>T
1 paper
NM_021073.4
p.D183G
c.548A>G
1 paper
NM_021073.4
p.R181*
c.541C>T
1 paper
NM_021073.4
p.E179*
c.535G>T
1 paper
NM_021073.4
p.I222delFs
c.666delG
1 paper
NM_021073.4
p.R174Q
c.521G>A
1 paper
NM_021073.4
p.R174*
c.520C>T
1 paper
NM_021073.4
p.R166S
c.498A>T
1 paper
NM_021073.4
p.R166S
c.498A>C
1 paper
NM_021073.4
p.V164F
c.490G>T
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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."