Varaico: Literature-Extracted Genetic Variants

Gene:LOX
Variant:p.P39L

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
2 papers
NM_002317.7
p.P39L
c.116C>T
Surrounding Variants
1 paper
NM_002317.7
p.G40G
c.120C>T
4 papers
NM_002317.7
p.W42*
c.125G>A
1 paper
NM_002317.7
p.P36L
c.107C>T
4 papers
NM_002317.7
p.W42*
c.126G>A
1 paper
NM_002317.7
p.P35S
c.103C>T
1 paper
NM_002317.7
p.Q44H
c.132G>T
1 paper
NM_002317.7
p.E34K
c.100G>A
1 paper
NM_002317.7
p.Q45*
c.133C>T
1 paper
NM_002317.7
p.Q45H
c.135G>T
3 papers
NM_002317.7
p.P32L
c.95C>T
1 paper
NM_002317.7
p.P32R
c.95C>G
1 paper
NM_002317.7
p.W48L
c.143G>T
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