Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.V106Splc

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
8 papers
NM_001042472.3
p.V106Splc
c.316+2T>A
Surrounding Variants
1 paper
NM_001042472.3
p.V106Splc
c.316+5G>A
1 paper
NM_001042472.3
p.F105F
c.315C>T
1 paper
NM_001042472.3
p.I101M
c.303T>G
1 paper
NM_001042472.3
p.A98T
c.292G>A
1 paper
NM_001042472.3
p.K91insFs
c.271dupA
1 paper
NM_001042472.3
p.K91I
c.272A>T
1 paper
NM_001042472.3
p.P87S
c.259C>T
7 papers
NM_001042472.3
p.P87T
c.259C>A
5 papers
NM_001042472.3
p.Y83*
c.249C>G
3 papers
NM_001042472.3
p.Y83*
c.249C>A
1 paper
NM_001042472.3
p.V79V
c.237T>A
1 paper
NM_001042472.3
p.V79L
c.235G>C
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