Varaico: Literature-Extracted Genetic Variants

Gene:LOX
Variant:p.T248I

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
3 papers
NM_002317.7
p.T248I
c.743C>T
Surrounding Variants
1 paper
NM_002317.7
p.S247R
c.741T>G
1 paper
NM_002317.7
p.S247R
c.741T>A
1 paper
NM_002317.7
p.S247R
c.739A>C
1 paper
NM_002317.7
p.Y250C
c.749A>G
1 paper
NM_002317.7
p.Y250*
c.750C>G
1 paper
NM_002317.7
p.Y257*
c.771T>G
1 paper
NM_002317.7
p.Y257*
c.771T>A
1 paper
NM_002317.7
p.R264G
c.790A>G
3 papers
NM_002317.7
p.Q267P
c.800A>C
1 paper
NM_002317.7
p.R268fs
c.802_803fs
1 paper
NM_002317.7
p.R268K
c.803G>A
1 paper
NM_002317.7
p.R268delFs
c.802delT
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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."