Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.P291del1

LOXL1

211 papers

RefSeq Summary

This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent ...

Pfam Domains

Lysyl_oxidaseaa 370–569UCSCLysyl oxidase

Gene Aliases

HGNC Name

lysyl oxidase like 1

HGNC Alias Symbol

LOL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005576.4
p.P291del1
c.871_873delCCT
Surrounding Variants
1 paper
NM_005576.4
p.G285V
c.854G>T
1 paper
NM_005576.4
p.E281fs
c.841_842fs
1 paper
NM_005576.4
p.E281fs
c.841_842fs
1 paper
NM_005576.4
p.R272G
c.814C>G
1 paper
NM_005576.4
p.D268G
c.803A>G
1 paper
NM_005576.4
p.P317L
c.950C>T
1 paper
NM_005576.4
p.P263S
c.787C>T
1 paper
NM_005576.4
p.P262P
c.786G>C
3 papers
NM_005576.4
p.A320A
c.960G>T
1 paper
NM_005576.4
p.P258S
c.772C>T
1 paper
NM_005576.4
p.Y252insFs
c.755_756ins10
1 paper
NM_005576.4
p.G250C
c.748G>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."