Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.R65*

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
16 papers
NM_001042472.3
p.R65*
c.193C>T
Surrounding Variants
1 paper
NM_001042472.3
p.K66*
c.196A>T
1 paper
NM_001042472.3
p.G67S
c.199G>A
2 papers
NM_001042472.3
p.W69delFs
c.205_206delCA
5 papers
NM_001042472.3
p.R71fs
c.211_212fs
1 paper
NM_001042472.3
p.R71P
c.212G>C
1 paper
NM_001042472.3
p.K74*
c.220A>T
6 papers
NM_001042472.3
p.R71_I75delFs
c.211_223del13
1 paper
NM_001042472.3
p.L76F
c.226C>T
1 paper
NM_001042472.3
p.V79L
c.235G>C
1 paper
NM_001042472.3
p.V79V
c.237T>A
5 papers
NM_001042472.3
p.Y83*
c.249C>G
3 papers
NM_001042472.3
p.Y83*
c.249C>A
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."