Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.N127_Y129delins

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.N127_Y129delins
c.379_385delinsGATTCCTTATATACCATTGTAGTCT
Surrounding Variants
1 paper
NM_001042472.3
p.N127delFs
c.381delG
1 paper
NM_001042472.3
p.N127_Y129Fs
c.379_385delinsGATTCCTTATATFs
1 paper
NM_001042472.3
p.N127_Y129Fs
c.379_385delinsGATTCCTTATATACCATFs
1 paper
NM_001042472.3
p.Y129H
c.385T>C
1 paper
NM_001042472.3
p.N127_Y129Fs
c.379_385delinsATTCCFs
1 paper
NM_001042472.3
p.N127_Y129Fs
c.379_385delinsGATTCCFs
2 papers
NM_001042472.3
p.N127_Y129Fs
c.379_385delinsGATTCCTTATATACFs
1 paper
NM_001042472.3
p.N127_Y129Fs
c.379_385delinsGATTCCTTAFs
3 papers
NM_001042472.3
p.N127_Y129Fs
c.379_385delinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACAFs
1 paper
NM_001042472.3
p.N127_Y129delFs
c.379_385del7
6 papers
NM_001042472.3
p.N127fs
c.379_380fs
9 papers
NM_001042472.3
p.T125M
c.374C>T
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