Varaico: Literature-Extracted Genetic Variants

Gene:ABHD8
Variant:p.A229V

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.A229V
c.686C>T
Surrounding Variants
1 paper
NM_024527.5
p.E204fs
c.610_611fs
1 paper
NM_024527.5
p.F197V
c.589T>G
1 paper
NM_024527.5
p.F179V
c.535T>G
1 paper
NM_024527.5
p.L178L
c.534C>A
1 paper
NM_024527.5
p.D175Y
c.523G>T
1 paper
NM_024527.5
p.A172S
c.514G>T
1 paper
NM_024527.5
p.A172T
c.514G>A
1 paper
NM_024527.5
p.C162*
c.486T>A
1 paper
NM_024527.5
p.G146V
c.437G>T
1 paper
NM_024527.5
p.G146E
c.437G>A
1 paper
NM_024527.5
p.P99P
c.297T>A
1 paper
NM_024527.5
p.R97G
c.289C>G
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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."