Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.Q27P

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.Q27P
c.80A>C
Surrounding Variants
1 paper
NM_005576.4
p.Q27R
c.80A>G
1 paper
NM_005576.4
p.Q27L
c.80A>T
1 paper
NM_005576.4
p.Q27K
c.79C>A
1 paper
NM_005576.4
p.Q27E
c.79C>G
1 paper
NM_005576.4
p.Q27H
c.81G>C
1 paper
NM_005576.4
p.Q27H
c.81G>T
1 paper
NM_005576.4
p.A28T
c.82G>A
1 paper
NM_005576.4
p.Q26H
c.78G>C
1 paper
NM_005576.4
p.Q26H
c.78G>T
1 paper
NM_005576.4
p.A28S
c.82G>T
1 paper
NM_005576.4
p.Q26P
c.77A>C
1 paper
NM_005576.4
p.Q26R
c.77A>G
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