Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.E474K

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
3 papers
NM_005576.4
p.E474K
c.1420G>A
Surrounding Variants
1 paper
NM_005576.4
p.E474V
c.1421A>T
1 paper
NM_005576.4
p.F480C
c.1439T>G
1 paper
NM_005576.4
p.A467V
c.1400C>T
1 paper
NM_005576.4
p.A466V
c.1397C>T
1 paper
NM_005576.4
p.D484E
c.1452C>A
1 paper
NM_005576.4
p.D484E
c.1452C>G
1 paper
NM_005576.4
p.G490S
c.1468G>A
1 paper
NM_005576.4
p.Q502_G503Splc
c.1506+49G>A
1 paper
NM_005576.4
p.Q450Splc
c.1350-101G>A
1 paper
NM_005576.4
p.Q450Splc
c.1350-155G>A
1 paper
NM_005576.4
p.Q450Splc
c.1349+23C>T
1 paper
NM_005576.4
p.C448F
c.1343G>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."