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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABHD2

Variant:p.R175H

ABHD2

36 papers

RefSeq Summary

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydr...

Pfam Domains

Abhydrolase_1aa 126–383UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 2, acylglycerol lipase

HGNC Alias Symbol

LABH2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr15:89155520 G>A

NM_152924.5

p.R175H

c.524G>A

Abhydrolase_1

Exome: 0.0% (AC=4, hom=0)Genome: n/a5 overlapping SVs

Surrounding Variants

1 paper

chr15:89155478 A>T

NM_152924.5

p.N161I

c.482A>T

Abhydrolase_1

exact variant not in gnomAD5 overlapping SVs

1 paper

chr15:89155467 C>A

NM_152924.5

p.C157*

c.471C>A

Abhydrolase_1

exact variant not in gnomAD5 overlapping SVs

1 paper

chr15:89155385 T>A

NM_152924.5

p.I130N

c.389T>A

Abhydrolase_1

exact variant not in gnomAD5 overlapping SVs

1 paper

chr15:89151812 A>T

NM_152924.5

p.T110T

c.330A>T

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=1, hom=0)5 overlapping SVs

1 paper

chr15:89151724 C>G

NM_152924.5

p.A81G

c.242C>G

exact variant not in gnomAD5 overlapping SVs

1 paper

chr15:89151689 G>A

NM_152924.5

p.P69P

c.207G>A

Exome: 0.1% (AC=816, hom=2)Genome: 0.0% (AC=26, hom=0)5 overlapping SVs

1 paper

chr15:89151688 C>T

NM_152924.5

p.P69L

c.206C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a5 overlapping SVs

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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."