Varaico: Literature-Extracted Genetic Variants

Gene:BMP5
Variant:p.S97L

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
1 paper
NM_021073.4
p.S97L
c.290C>T
Surrounding Variants
1 paper
NM_021073.4
p.E91*
c.271G>T
1 paper
NM_021073.4
p.M88_T89del2
c.262_266del6
1 paper
NM_021073.4
p.G111R
c.331G>C
1 paper
NM_021073.4
p.G111R
c.331G>A
1 paper
NM_021073.4
p.D83V
c.248A>T
1 paper
NM_021073.4
p.Y116S
c.347A>C
1 paper
NM_021073.4
p.P78S
c.232C>T
1 paper
NM_021073.4
p.P117S
c.349C>T
1 paper
NM_021073.4
p.P120T
c.358C>A
1 paper
NM_021073.4
p.N121S
c.362A>G
1 paper
NM_021073.4
p.G122V
c.365G>T
1 paper
NM_021073.4
p.I127V
c.379A>G
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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."