Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.E46D

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.E46D
c.138G>T
Surrounding Variants
1 paper
NM_005576.4
p.E46D
c.138G>C
1 paper
NM_005576.4
p.E46A
c.137A>C
1 paper
NM_005576.4
p.E46G
c.137A>G
1 paper
NM_005576.4
p.E46V
c.137A>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.G49R
c.145G>A
1 paper
NM_005576.4
p.G49R
c.145G>C
1 paper
NM_005576.4
p.G49W
c.145G>T
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.G49E
c.146G>A
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