Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.A163A

ABHD12

145 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabi...

Pfam Domains

Abhydrolase_1aa 169–301UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 12, lysophospholipase

HGNC Previous Symbol

C20orf22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001042472.3
p.A163A
c.489C>A
Surrounding Variants
13 papers
NM_001042472.3
p.W159*
c.477G>A
12 papers
NM_001042472.3
p.W159*
c.476G>A
1 paper
NM_001042472.3
p.W159_Y160insTAA
c.475_479ins9
2 papers
NM_001042472.3
p.G176E
c.527G>A
5 papers
NM_001042472.3
p.W149*
c.447G>A
1 paper
NM_001042472.3
p.W149*
c.446G>A
1 paper
NM_001042472.3
p.A178A
c.534A>T
1 paper
NM_001042472.3
p.H142Y
c.424C>T
2 papers
NM_001042472.3
p.G139R
c.415G>C
2 papers
NM_001042472.3
p.G139R
c.415G>A
1 paper
NM_001042472.3
p.V136M
c.406G>A
1 paper
NM_001042472.3
p.N127_Y129delFs
c.379_385del7
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