Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.R116fs

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.R116fs
c.346_347fs
Surrounding Variants
1 paper
NM_005576.4
p.R116_H117delFs
c.348_349delGC
1 paper
NM_005576.4
p.A115delFs
c.344delC
1 paper
NM_005576.4
p.V111E
c.332T>A
1 paper
NM_005576.4
p.P125S
c.373C>T
1 paper
NM_005576.4
p.L100P
c.299T>C
1 paper
NM_005576.4
p.R93Q
c.278G>A
114 papers
NM_005576.4
p.R141L
c.422G>T
1 paper
NM_005576.4
p.A142V
c.425C>T
1 paper
NM_005576.4
p.H89Y
c.265C>T
1 paper
NM_005576.4
p.R87G
c.259C>G
1 paper
NM_005576.4
p.A83V
c.248C>T
1 paper
NM_005576.4
p.H151N
c.451C>A
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