Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.H372Q

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
10 papers
NM_001042472.3
p.H372Q
c.1116C>G
Surrounding Variants
8 papers
NM_001042472.3
p.H372Q
c.1116C>A
1 paper
NM_001042472.3
p.H372R
c.1115A>G
1 paper
NM_001042472.3
p.R371M
c.1112G>T
11 papers
NM_001042472.3
p.K377*
c.1129A>T
2 papers
NM_001042472.3
p.I375_K377del0
c.1124_1129del6
1 paper
NM_001042472.3
p.D367N
c.1099G>A
1 paper
NM_001042472.3
p.P382L
c.1145C>T
1 paper
NM_001042472.3
p.I384V
c.1150A>G
1 paper
NM_001042472.3
p.Q360del1
c.1078_1079delCTG
9 papers
NM_001042472.3
p.L385P
c.1154T>C
1 paper
NM_001042472.3
p.V359fs
c.1075_1076fs
7 papers
NM_001042472.3
p.V359delFs
c.1075delC
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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."