Varaico: Literature-Extracted Genetic Variants

Gene:ABHD3
Variant:p.A180V

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138340.5
p.A180V
c.539C>T
Surrounding Variants
1 paper
NM_138340.5
p.G178E
c.533G>A
1 paper
NM_138340.5
p.L185_T186Splc
c.555+2T>A
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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."