Varaico: Literature-Extracted Genetic Variants

Gene:AOAH
Variant:p.A266G

AOAH

77 papers

RefSeq Summary

This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, ...

Pfam Domains

Saposinaa 40–170UCSCSaposin-like domain
Lipase_GDSLaa 257–543UCSCGDSL-like Lipase/Acylhydrolase

Gene Aliases

HGNC Name

acyloxyacyl hydrolase

HGNC Previous Name

acyloxyacyl hydrolase (neutrophil)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001637.4
p.A266G
c.797C>G
Surrounding Variants
1 paper
NM_001637.4
p.G256R
c.766G>C
1 paper
NM_001637.4
p.G256R
c.766G>A
1 paper
NM_001637.4
p.S281F
c.842C>T
2 papers
NM_001637.4
p.P243L
c.728C>T
1 paper
NM_001637.4
p.S228L
c.683C>T
1 paper
NM_001637.4
p.P219L
c.656C>T
1 paper
NM_001637.4
p.N207H
c.619A>C
1 paper
NM_001637.4
p.R204delFs
c.610_611delCT
1 paper
NM_001637.4
p.D205N
c.613G>A
1 paper
NM_001637.4
p.R204G
c.610A>G
2 papers
NM_001637.4
p.R202Q
c.605G>A
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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."