Varaico: Literature-Extracted Genetic Variants

Gene:ABHD3

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
1–12 of 23 variants
2 papers
NM_138340.5
p.S12Y
c.35C>A
1 paper
NM_138340.5
p.S30W
c.89C>G
1 paper
NM_138340.5
p.V42L
c.124G>C
1 paper
NM_138340.5
p.Y47C
c.140A>G
1 paper
NM_138340.5
p.G118G
c.354A>G
1 paper
NM_138340.5
p.G178E
c.533G>A
1 paper
NM_138340.5
p.A180V
c.539C>T
1 paper
NM_138340.5
p.L185_T186Splc
c.555+2T>A
1 paper
NM_138340.5
p.P187R
c.560C>G
1 paper
NM_138340.5
p.S207R
c.619A>C
1 paper
NM_138340.5
p.S207R
c.621C>G
1 paper
NM_138340.5
p.S207R
c.621C>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."