Varaico: Literature-Extracted Genetic Variants

Gene:ALOX5AP
Variant:p.L122R

ALOX5AP

139 papers

RefSeq Summary

This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory...

Pfam Domains

MAPEGaa 5–128UCSCMAPEG family

Gene Aliases

HGNC Name

arachidonate 5-lipoxygenase activating protein

HGNC Alias Symbol

FLAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001629.4
p.L122R
c.365T>G
Surrounding Variants
1 paper
NM_001629.4
p.L122M
c.364C>A
1 paper
NM_001629.4
p.M125T
c.374T>C
1 paper
NM_001629.4
p.I119R
c.356T>G
1 paper
NM_001629.4
p.M125R
c.374T>G
1 paper
NM_001629.4
p.S126A
c.376T>G
1 paper
NM_001629.4
p.V127F
c.379G>T
1 paper
NM_001629.4
p.R117H
c.350G>A
1 paper
NM_001629.4
p.K116_R117insGT
c.346_350ins6
3 papers
NM_001629.4
p.K116_R117ins4
c.346_350ins12
1 paper
NM_001629.4
p.K116_R117ins8
c.346_350ins24
1 paper
NM_001629.4
p.G115A
c.344G>C
1 paper
NM_001629.4
p.F131L
c.391T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."