Varaico: Literature-Extracted Genetic Variants

Gene:LOX
Variant:p.S132_R133insFs

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.S132_R133insFs
c.396_397insAC
Surrounding Variants
1 paper
NM_002317.7
p.S132F
c.395C>T
1 paper
NM_002317.7
p.A134V
c.401C>T
1 paper
NM_002317.7
p.S130*
c.389C>A
3 papers
NM_002317.7
p.A137P
c.409G>C
1 paper
NM_002317.7
p.G128D
c.383G>A
1 paper
NM_002317.7
p.S140W
c.419C>G
1 paper
NM_002317.7
p.S140*
c.419C>A
1 paper
NM_002317.7
p.R141C
c.421C>T
10 papers
NM_002317.7
p.R141L
c.422G>T
1 paper
NM_002317.7
p.H123N
c.367C>A
1 paper
NM_002317.7
p.N144S
c.431A>G
1 paper
NM_002317.7
p.Q145*
c.433C>T
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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."