Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1

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
1–12 of 191 variants
114 papers
NM_005576.4
p.R141L
c.422G>T
110 papers
NM_005576.4
p.G153D
c.458G>A
8 papers
NM_005576.4
p.Y407F
c.1220A>T
4 papers
NM_005576.4
p.S159A
c.475T>G
3 papers
NM_005576.4
p.A320A
c.960G>T
3 papers
NM_005576.4
p.E474K
c.1420G>A
2 papers
NM_005576.4
p.A17P
c.49G>C
2 papers
NM_005576.4
p.P66S
c.196C>T
2 papers
NM_005576.4
p.S161L
c.482C>T
2 papers
NM_005576.4
p.G210S
c.628G>A
2 papers
NM_005576.4
p.G368Splc
c.1102+1976T>C
2 papers
NM_005576.4
p.P370L
c.1109C>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."