Varaico: Literature-Extracted Genetic Variants

Gene:ABHD2
Variant:p.V202V

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152924.5
p.V202V
c.606C>T
Surrounding Variants
1 paper
NM_152924.5
p.I192M
c.576C>G
1 paper
NM_152924.5
p.M188I
c.564G>A
1 paper
NM_152924.5
p.M188I
c.564G>C
1 paper
NM_152924.5
p.M188I
c.564G>T
1 paper
NM_152924.5
p.C229fs
c.685_686fs
1 paper
NM_152924.5
p.Q243H
c.729G>C
1 paper
NM_152924.5
p.Q243H
c.729G>T
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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."