Varaico: Literature-Extracted Genetic Variants

Gene:ABHD1
Variant:p.Y372C

ABHD1

34 papers

RefSeq Summary

This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic ...

Pfam Domains

Abhydrolase_1aa 123–365UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 1

HGNC Alias Symbols

LABH1; FLJ36128

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032604.4
p.Y372C
c.1115A>G
Surrounding Variants
4 papers
NM_032604.4
p.W371C
c.1113G>C
4 papers
NM_032604.4
p.W371C
c.1113G>T
1 paper
NM_032604.4
p.M373I
c.1119G>A
1 paper
NM_032604.4
p.M373I
c.1119G>C
1 paper
NM_032604.4
p.M373I
c.1119G>T
1 paper
NM_032604.4
p.G356R
c.1066G>C
1 paper
NM_032604.4
p.A349V
c.1046C>T
1 paper
NM_032604.4
p.V348I
c.1042G>A
1 paper
NM_032604.4
p.P346H
c.1037C>A
2 papers
NM_032604.4
p.A342T
c.1024G>A
1 paper
NM_032604.4
p.Q286R
c.857A>G
1 paper
NM_032604.4
p.D274N
c.820G>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."