Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.V201insFs

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
2 papers
NM_001042472.3
p.V201insFs
c.601dupG
Surrounding Variants
1 paper
NM_001042472.3
p.V201I
c.601G>A
1 paper
NM_001042472.3
p.V201fs
c.601_602fs
11 papers
NM_001042472.3
p.T202I
c.605C>T
2 papers
NM_001042472.3
p.Y205_R206del2
c.613_617del6
1 paper
NM_001042472.3
p.L193Q
c.578T>A
1 paper
NM_001042472.3
p.L193ins1
c.577_578insGCC
1 paper
NM_001042472.3
p.K191_V192Splc
c.573+3G>C
1 paper
NM_001042472.3
p.L189F
c.565C>T
1 paper
NM_001042472.3
p.V187L
c.559G>T
1 paper
NM_001042472.3
p.V187L
c.559G>C
12 papers
NM_001042472.3
p.R186P
c.557G>C
2 papers
NM_001042472.3
p.R186H
c.557G>A
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