Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.Q67_R68delFs

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.Q67_R68delFs
c.200_203del4
Surrounding Variants
2 papers
NM_005576.4
p.P66S
c.196C>T
1 paper
NM_005576.4
p.E70K
c.208G>A
1 paper
NM_005576.4
p.R74fs
c.220_221fs
1 paper
NM_005576.4
p.R74_V75insFs
c.222_223insA
1 paper
NM_005576.4
p.V75A
c.224T>C
1 paper
NM_005576.4
p.A80T
c.238G>A
1 paper
NM_005576.4
p.V51V
c.153G>A
1 paper
NM_005576.4
p.A83V
c.248C>T
1 paper
NM_005576.4
p.G49E
c.146G>A
1 paper
NM_005576.4
p.G49A
c.146G>C
1 paper
NM_005576.4
p.G49V
c.146G>T
1 paper
NM_005576.4
p.G49R
c.145G>A
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