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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABHD3

Variant:p.G118G

ABHD3

26 papers

RefSeq Summary

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided ...

Pfam Domains

Abhydrolase_1aa 140–382UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 3, phospholipase

HGNC Alias Symbol

LABH3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr18:21702471 T>C

NM_138340.5

p.G118G

c.354A>G

exact variant not in gnomAD1 overlapping SV

Surrounding Variants

1 paper

chr18:21704526 T>C

NM_138340.5

p.Y47C

c.140A>G

Exome: 0.0% (AC=59, hom=0)Genome: 0.0% (AC=1, hom=0)1 overlapping SV

1 paper

chr18:21704542 C>G

NM_138340.5

p.V42L

c.124G>C

Exome: 0.0% (AC=7, hom=0)Genome: n/a1 overlapping SV

1 paper

chr18:21704577 G>C

NM_138340.5

p.S30W

c.89C>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a1 overlapping SV

2 papers

chr18:21704631 G>T

NM_138340.5

p.S12Y

c.35C>A

Exome: 0.0% (AC=244, hom=1)Genome: 0.2% (AC=255, hom=0)1 overlapping SV

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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."