Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.R40R

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.R40R
c.118C>A
Surrounding Variants
1 paper
NM_005576.4
p.Q41*
c.121C>T
1 paper
NM_005576.4
p.R38H
c.113G>A
1 paper
NM_005576.4
p.R38P
c.113G>C
1 paper
NM_005576.4
p.R38L
c.113G>T
1 paper
NM_005576.4
p.R38S
c.112C>A
1 paper
NM_005576.4
p.R38G
c.112C>G
1 paper
NM_005576.4
p.Q44E
c.130C>G
1 paper
NM_005576.4
p.Q44*
c.130C>T
1 paper
NM_005576.4
p.E46K
c.136G>A
1 paper
NM_005576.4
p.E46Q
c.136G>C
1 paper
NM_005576.4
p.E46A
c.137A>C
1 paper
NM_005576.4
p.E46G
c.137A>G
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