Varaico: Literature-Extracted Genetic Variants

Gene:BMP5
Variant:p.V157V

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.V157V
c.471C>T
Surrounding Variants
1 paper
NM_021073.4
p.A154delFs
c.462delA
1 paper
NM_021073.4
p.L151_N152del2
c.451_455del6
1 paper
NM_021073.4
p.P140_P141del1
c.419_421delGAG
1 paper
NM_021073.4
p.P141S
c.421C>T
1 paper
NM_021073.4
p.R131Q
c.392G>A
1 paper
NM_021073.4
p.S130Y
c.389C>A
3 papers
NM_021073.4
p.I127K
c.380T>A
1 paper
NM_021073.4
p.I127V
c.379A>G
1 paper
NM_021073.4
p.G122V
c.365G>T
1 paper
NM_021073.4
p.N121S
c.362A>G
1 paper
NM_021073.4
p.P120T
c.358C>A
1 paper
NM_021073.4
p.P117S
c.349C>T
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