Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.L259insFs

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.L259insFs
c.776_777insG
Surrounding Variants
1 paper
NM_001042472.3
p.C260Y
c.779G>A
1 paper
NM_001042472.3
p.E261E
c.783G>A
5 papers
NM_001042472.3
p.R257W
c.769C>T
11 papers
NM_001042472.3
p.R262*
c.784C>T
1 paper
NM_001042472.3
p.E263Splc
c.787+3G>A
10 papers
NM_001042472.3
p.T253R
c.758C>G
1 paper
NM_001042472.3
p.A252G
c.755C>G
1 paper
NM_001042472.3
p.E263Splc
c.788-1G>T
1 paper
NM_001042472.3
p.A268S
c.802G>T
2 papers
NM_001042472.3
p.L269P
c.806T>C
1 paper
NM_001042472.3
p.I270T
c.809T>C
1 paper
NM_001042472.3
p.L271L
c.811T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."