Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.A17S

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.A17S
c.49G>T
Surrounding Variants
1 paper
NM_005576.4
p.A17T
c.49G>A
2 papers
NM_005576.4
p.A17P
c.49G>C
1 paper
NM_005576.4
p.G16D
c.47G>A
1 paper
NM_005576.4
p.G16A
c.47G>C
1 paper
NM_005576.4
p.G16V
c.47G>T
1 paper
NM_005576.4
p.G16S
c.46G>A
1 paper
NM_005576.4
p.G16R
c.46G>C
1 paper
NM_005576.4
p.G16C
c.46G>T
1 paper
NM_005576.4
p.W15*
c.45G>A
1 paper
NM_005576.4
p.W15C
c.45G>C
1 paper
NM_005576.4
p.W15C
c.45G>T
1 paper
NM_005576.4
p.W15R
c.43T>A
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