Varaico: Literature-Extracted Genetic Variants

Gene:BMP5

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
1–12 of 111 variants
5 papers
NM_021073.4
p.R321*
c.961C>T
3 papers
NM_021073.4
p.I127K
c.380T>A
2 papers
NM_021073.4
p.S37S
c.111T>C
2 papers
NM_021073.4
p.R199W
c.595C>T
2 papers
NM_021073.4
p.R208*
c.622C>T
2 papers
NM_021073.4
p.G290E
c.869G>A
2 papers
NM_021073.4
p.R321Q
c.962G>A
1 paper
NM_021073.4
p.H2Y
c.4C>T
1 paper
NM_021073.4
p.H2D
c.4C>G
1 paper
NM_021073.4
p.L3_T4insFs
c.9_10ins8
1 paper
NM_021073.4
p.G30fs
c.88_89fs
1 paper
NM_021073.4
p.G30delFs
c.88_89delCC
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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."