Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.G368Splc

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.G368Splc
c.1102+1976T>C
Surrounding Variants
1 paper
NM_005576.4
p.G368Splc
c.1102+2761C>T
1 paper
NM_005576.4
p.R367H
c.1100G>A
1 paper
NM_005576.4
p.N365K
c.1095C>A
1 paper
NM_005576.4
p.R353G
c.1057C>G
1 paper
NM_005576.4
p.G348_A349del2
c.1042_1046del6
1 paper
NM_005576.4
p.P340L
c.1019C>T
1 paper
NM_005576.4
p.P340S
c.1018C>T
1 paper
NM_005576.4
p.S336I
c.1007G>T
3 papers
NM_005576.4
p.A320A
c.960G>T
1 paper
NM_005576.4
p.P317L
c.950C>T
1 paper
NM_005576.4
p.P291del1
c.871_873delCCT
1 paper
NM_005576.4
p.G285V
c.854G>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."