Varaico: Literature-Extracted Genetic Variants

Gene:ABHD1
Variant:p.P40P

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
1 paper
NM_032604.4
p.P40P
c.120T>A
Surrounding Variants
1 paper
NM_032604.4
p.A44T
c.130G>A
1 paper
NM_032604.4
p.Q47*
c.139C>T
2 papers
NM_032604.4
p.C56R
c.166T>C
1 paper
NM_032604.4
p.E71Q
c.211G>C
1 paper
NM_032604.4
p.Q75_S76delFs
c.224_227del4
1 paper
NM_032604.4
p.T97I
c.290C>T
1 paper
NM_032604.4
p.L103L
c.309C>A
1 paper
NM_032604.4
p.D118N
c.352G>A
1 paper
NM_032604.4
p.G130A
c.389G>C
1 paper
NM_032604.4
p.S135N
c.404G>A
1 paper
NM_032604.4
p.G164R
c.490G>A
1 paper
NM_032604.4
p.G164R
c.490G>C
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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."