Varaico: Literature-Extracted Genetic Variants

Gene:ALOX5AP
Variant:p.Y54*

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.Y54*
c.162C>A
Surrounding Variants
1 paper
NM_001629.4
p.Y54C
c.161A>G
1 paper
NM_001629.4
p.T55I
c.164C>T
1 paper
NM_001629.4
p.A56V
c.167C>T
1 paper
NM_001629.4
p.R52G
c.154C>G
1 paper
NM_001629.4
p.F50L
c.150T>A
1 paper
NM_001629.4
p.F50L
c.150T>G
1 paper
NM_001629.4
p.F50L
c.148T>C
2 papers
NM_001629.4
p.N57Splc
c.170+12C>A
1 paper
NM_001629.4
p.G46R
c.136G>A
1 paper
NM_001629.4
p.G46R
c.136G>C
1 paper
NM_001629.4
p.S41S
c.123C>T
1 paper
NM_001629.4
p.F42delFs
c.124delT
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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."