Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.E281A

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.E281A
c.842A>C
Surrounding Variants
1 paper
NM_001042472.3
p.E280K
c.838G>A
1 paper
NM_001042472.3
p.R279H
c.836G>A
1 paper
NM_001042472.3
p.S284_H285insFs
c.852_853ins7
1 paper
NM_001042472.3
p.S284delFs
c.851delC
8 papers
NM_001042472.3
p.A282_S284insFs
c.846_852dup7
6 papers
NM_001042472.3
p.H285fs
c.853_854fs
1 paper
NM_001042472.3
p.T276I
c.827C>T
1 paper
NM_001042472.3
p.V289_I290Splc
c.867+2C>T
1 paper
NM_001042472.3
p.E272K
c.814G>A
9 papers
NM_001042472.3
p.V289_I290Splc
c.867+5G>A
1 paper
NM_001042472.3
p.L271L
c.811T>C
1 paper
NM_001042472.3
p.I270T
c.809T>C
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