Varaico: Literature-Extracted Genetic Variants

Gene:LOX
Variant:p.D188A

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.D188A
c.563A>C
Surrounding Variants
1 paper
NM_002317.7
p.D179_Y187del9
c.535_560del27
1 paper
NM_002317.7
p.Y177_P182del0
c.529_546del18
1 paper
NM_002317.7
p.Y183S
c.548A>C
1 paper
NM_002317.7
p.P182delFs
c.545delG
1 paper
NM_002317.7
p.P182fs
c.544_545fs
1 paper
NM_002317.7
p.R198G
c.592A>G
1 paper
NM_002317.7
p.R198delFs
c.594delC
3 papers
NM_002317.7
p.G202*
c.604G>T
1 paper
NM_002317.7
p.G202R
c.604G>C
1 paper
NM_002317.7
p.G202R
c.604G>A
1 paper
NM_002317.7
p.P174H
c.521C>A
1 paper
NM_002317.7
p.Y203Y
c.609C>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."