Varaico: Literature-Extracted Genetic Variants

Gene:AOAH
Variant:p.G517*

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
3 papers
NM_001637.4
p.G517*
c.1549G>T
Surrounding Variants
1 paper
NM_001637.4
p.K514K
c.1542G>A
1 paper
NM_001637.4
p.G528*
c.1582G>T
1 paper
NM_001637.4
p.G528R
c.1582G>C
1 paper
NM_001637.4
p.G528R
c.1582G>A
1 paper
NM_001177506.2
p.Q556*
c.1666C>T
1 paper
NM_001637.4
p.Q479R
c.1436A>G
1 paper
NM_001637.4
p.A477E
c.1430C>A
1 paper
NM_001637.4
p.A477P
c.1429G>C
1 paper
NM_001637.4
p.A540T
c.1618G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."