Varaico: Literature-Extracted Genetic Variants

Gene:LOX
Variant:p.P117delFs

LOX

356 papers

RefSeq Summary

This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically ...

Pfam Domains

Lysyl_oxidaseaa 213–412UCSCLysyl oxidase

Gene Aliases

HGNC Name

lysyl oxidase

HGNC Alias Name

protein-lysine 6-oxidase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002317.7
p.P117delFs
c.351delG
Surrounding Variants
1 paper
NM_002317.7
p.R118fs
c.352_353fs
1 paper
NM_002317.7
p.G115delFs
c.344delC
1 paper
NM_002317.7
p.G115fs
c.343_344fs
1 paper
NM_002317.7
p.A114S
c.340G>T
1 paper
NM_002317.7
p.H123N
c.367C>A
1 paper
NM_002317.7
p.G108insFs
c.323_324ins10
1 paper
NM_002317.7
p.G128D
c.383G>A
1 paper
NM_002317.7
p.S130*
c.389C>A
3 papers
NM_002317.7
p.R105W
c.313C>T
1 paper
NM_002317.7
p.T104M
c.311C>T
1 paper
NM_002317.7
p.S132F
c.395C>T
1 paper
NM_002317.7
p.S132_R133insFs
c.396_397insAC
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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."