Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.P370L

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
2 papers
NM_005576.4
p.P370L
c.1109C>T
Surrounding Variants
1 paper
NM_005576.4
p.D371E
c.1113C>G
1 paper
NM_005576.4
p.P376R
c.1127C>G
1 paper
NM_005576.4
p.N377N
c.1131C>T
1 paper
NM_005576.4
p.Q386*
c.1156C>T
1 paper
NM_005576.4
p.Q386H
c.1158G>C
1 paper
NM_005576.4
p.Q386H
c.1158G>T
1 paper
NM_005576.4
p.L393R
c.1178T>G
1 paper
NM_005576.4
p.E398A
c.1193A>C
1 paper
NM_005576.4
p.S404Splc
c.1211+197C>T
8 papers
NM_005576.4
p.Y407F
c.1220A>T
1 paper
NM_005576.4
p.V418L
c.1252G>C
1 paper
NM_005576.4
p.V426M
c.1276G>A
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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."