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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MGLL

Variant:p.R67R

MGLL

53 papers

RefSeq Summary

This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in ...

Pfam Domains

Hydrolase_4aa 39–276UCSCSerine aminopeptidase, S33

Gene Aliases

HGNC Name

monoglyceride lipase

HGNC Alias Symbols

HU-K5; MGL; MAGL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr3:127781850 G>T

NM_007283.7

p.R67R

c.201C>A

Hydrolase_4

exact variant not in gnomAD67 overlapping SVs

Surrounding Variants

1 paper

chr3:127781848 T>C

NM_007283.7

p.Y68C

c.203A>G

Hydrolase_4

exact variant not in gnomAD67 overlapping SVs

1 paper

chr3:127781836 G>T

NM_007283.7

p.A72D

c.215C>A

Hydrolase_4

exact variant not in gnomAD67 overlapping SVs

1 paper

chr3:127781834 G>A

NM_007283.7

p.R73W

c.217C>T

Hydrolase_4

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=23, hom=0)67 overlapping SVs

1 paper

chr3:127781833 C>T

NM_007283.7

p.R73Q

c.218G>A

Hydrolase_4

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=5, hom=0)67 overlapping SVs

1 paper

chr3:127781804 A>G

NM_007283.7

p.F83L

c.247T>C

Hydrolase_4

Exome: 0.0% (AC=180, hom=0)Genome: 0.0% (AC=9, hom=0)67 overlapping SVs

1 paper

chr3:127781802 G>C

NM_007283.7

p.F83L

c.249C>G

Hydrolase_4

exact variant not in gnomAD67 overlapping SVs

2 papers

chr3:127781802 G>T

NM_007283.7

p.F83L

c.249C>A

Hydrolase_4

Exome: 0.0% (AC=4, hom=0)Genome: n/a67 overlapping SVs

1 paper

chr3:127781799 G>C

NM_007283.7

p.A84A

c.252C>G

Hydrolase_4

exact variant not in gnomAD67 overlapping SVs

1 paper

chr3:127781795 C>T

NM_007283.7

p.D86N

c.256G>A

Hydrolase_4

Exome: 0.0% (AC=3, hom=0)Genome: n/a67 overlapping SVs

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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."