Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.H151N

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.H151N
c.451C>A
Surrounding Variants
110 papers
NM_005576.4
p.G153D
c.458G>A
1 paper
NM_005576.4
p.G153A
c.458G>C
1 paper
NM_005576.4
p.V158delFs
c.473delT
4 papers
NM_005576.4
p.S159A
c.475T>G
1 paper
NM_005576.4
p.S159L
c.476C>T
1 paper
NM_005576.4
p.A142V
c.425C>T
1 paper
NM_005576.4
p.A160P
c.478G>C
114 papers
NM_005576.4
p.R141L
c.422G>T
2 papers
NM_005576.4
p.S161L
c.482C>T
1 paper
NM_005576.4
p.R168L
c.503G>T
1 paper
NM_005576.4
p.P171A
c.511C>G
1 paper
NM_005576.4
p.P171S
c.511C>T
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