Varaico: Literature-Extracted Genetic Variants

Gene:LOX
Variant:p.A17S

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.A17S
c.49G>T
Surrounding Variants
1 paper
NM_002317.7
p.A17E
c.50C>A
1 paper
NM_002317.7
p.L18fs
c.52_53fs
2 papers
NM_002317.7
p.H20Y
c.58C>T
1 paper
NM_002317.7
p.L13insFs
c.39dupG
2 papers
NM_002317.7
p.P12A
c.34C>G
1 paper
NM_002317.7
p.L18_A22delFs
c.53_66del14
1 paper
NM_002317.7
p.L10L
c.30C>T
1 paper
NM_002317.7
p.P23P
c.69T>A
1 paper
NM_002317.7
p.P24H
c.71C>A
1 paper
NM_002317.7
p.L9L
c.25C>T
1 paper
NM_002317.7
p.L8V
c.22C>G
1 paper
NM_002317.7
p.G27S
c.79G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."