Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.R107delFs

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
9 papers
NM_001042472.3
p.R107delFs
c.319delT
Surrounding Variants
8 papers
NM_001042472.3
p.R107fs
c.319_320fs
1 paper
NM_001042472.3
p.P109L
c.326C>T
9 papers
NM_001042472.3
p.D113fs
c.337_338fs
1 paper
NM_001042472.3
p.D113N
c.337G>A
9 papers
NM_001042472.3
p.D113Fs
c.337_338delinsTTTFs
1 paper
NM_001042472.3
p.D113fs
c.337_338fs
1 paper
NM_001042472.3
p.D113delFs
c.337_338delTC
5 papers
NM_001042472.3
p.L114fs
c.340_341fs
6 papers
NM_001042472.3
p.L114insFs
c.341dupT
1 paper
NM_001042472.3
p.K116delFs
c.348delT
1 paper
NM_001042472.3
p.Q120delFs
c.360delT
9 papers
NM_001042472.3
p.T125M
c.374C>T
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