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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AOAH

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 70 variants

9 papers

chr7:36724067 C>T

NM_001637.4

p.D28N

c.82G>A

Exome: 34.7% (AC=506812, hom=90721)Genome: 30.3% (AC=46088, hom=7895)86 overlapping SVs

3 papers

chr7:36522089 C>A

NM_001637.4

p.G517*

c.1549G>T

Lipase_GDSL

Exome: 0.3% (AC=3900, hom=14)Genome: 0.2% (AC=263, hom=0)88 overlapping SVs

2 papers

chr7:36724117 G>A

NM_001637.4

p.A11V

c.32C>T

Exome: 0.4% (AC=6437, hom=21)Genome: 0.4% (AC=642, hom=1)86 overlapping SVs

2 papers

chr7:36621758 C>T

NM_001637.4

p.R202Q

c.605G>A

Saposin

Exome: 0.0% (AC=192, hom=1)Genome: 0.0% (AC=21, hom=0)88 overlapping SVs

2 papers

chr7:36618320 G>A

NM_001637.4

p.P243L

c.728C>T

Exome: 0.5% (AC=6773, hom=76)Genome: 0.5% (AC=782, hom=8)88 overlapping SVs

2 papers

chr7:36616429 G>C

NM_001637.4

p.A266G

c.797C>G

Lipase_GDSL

Exome: 13.1% (AC=190653, hom=13062)Genome: 9.9% (AC=15135, hom=936)88 overlapping SVs

1 paper

chr7:36724135 C>T

NM_001637.4

p.W5*

c.14G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a86 overlapping SVs

1 paper

chr7:36724134 C>T

NM_001637.4

p.W5*

c.15G>A

exact variant not in gnomAD86 overlapping SVs

1 paper

chr7:36724123 G>A

NM_001637.4

p.T9M

c.26C>T

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=2, hom=0)86 overlapping SVs

1 paper

chr7:36724083 C>T

NM_001637.4

p.S22S

c.66G>A

Exome: 34.4% (AC=502377, hom=89319)Genome: 38.0% (AC=57827, hom=11760)86 overlapping SVs

1 paper

chr7:36724068 G>A

NM_001637.4

p.N27N

c.81C>T

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=3, hom=0)86 overlapping SVs

1 paper

chr7:36724046 G>A

NM_001637.4

p.L35F

c.103C>T

exact variant not in gnomAD86 overlapping SVs

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