Varaico: Literature-Extracted Genetic Variants

Gene:BMP5
Variant:p.G290E

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.G290E
c.869G>A
Surrounding Variants
1 paper
NM_021073.4
p.G290*
c.868G>T
1 paper
NM_021073.4
p.V289M
c.865G>A
1 paper
NM_021073.4
p.G293R
c.877G>A
1 paper
NM_021073.4
p.G293E
c.878G>A
1 paper
NM_021073.4
p.K297*
c.889A>T
1 paper
NM_021073.4
p.F300L
c.898T>C
1 paper
NM_021073.4
p.F300L
c.900C>G
1 paper
NM_021073.4
p.F300L
c.900C>A
1 paper
NM_021073.4
p.G278Splc
c.833-4C>G
1 paper
NM_021073.4
p.F304L
c.910T>C
1 paper
NM_021073.4
p.F304L
c.912C>G
1 paper
NM_021073.4
p.F304L
c.912C>A
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