Varaico: Literature-Extracted Genetic Variants

Gene:LOX
Variant:p.K320E

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.K320E
c.958A>G
Surrounding Variants
1 paper
NM_002317.7
p.F323_C324ins10
c.967_971ins30
1 paper
NM_002317.7
p.E317insFs
c.949_950insA
1 paper
NM_002317.7
p.A316T
c.946G>A
1 paper
NM_002317.7
p.R314_V315insFs
c.942_943ins4
1 paper
NM_002317.7
p.R313insFs
c.938_939insT
1 paper
NM_002317.7
p.D327G
c.980A>G
1 paper
NM_002317.7
p.T311T
c.933C>T
3 papers
NM_002317.7
p.D308E
c.924T>G
2 papers
NM_002317.7
p.Y332C
c.995A>G
1 paper
NM_002317.7
p.L306P
c.917T>C
1 paper
NM_002317.7
p.Y334*
c.1002C>G
1 paper
NM_002317.7
p.Y334*
c.1002C>A
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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."