Varaico: Literature-Extracted Genetic Variants

Gene:ABHD8
Variant:p.A52T

ABHD8

38 papers

RefSeq Summary

This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase dom...

Pfam Domains

Abhydrolase_1aa 176–295UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 8

HGNC Alias Symbols

FLJ11743; MGC14280; MGC2512

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024527.5
p.A52T
c.154G>A
Surrounding Variants
1 paper
NM_024527.5
p.A52D
c.155C>A
1 paper
NM_024527.5
p.A63T
c.187G>A
2 papers
NM_024527.5
p.G70R
c.208G>C
2 papers
NM_024527.5
p.G70R
c.208G>A
1 paper
NM_024527.5
p.S73T
c.217T>A
1 paper
NM_024527.5
p.V76D
c.227T>A
1 paper
NM_024527.5
p.V27I
c.79G>A
2 papers
NM_024527.5
p.V21M
c.61G>A
1 paper
NM_024527.5
p.R97G
c.289C>G
1 paper
NM_024527.5
p.P99P
c.297T>A
1 paper
NM_024527.5
p.G146V
c.437G>T
1 paper
NM_024527.5
p.G146E
c.437G>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."