Varaico: Literature-Extracted Genetic Variants

Gene:ACOT8
Variant:p.Q197_M201del0

ACOT8

71 papers

RefSeq Summary

The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the huma...

Pfam Domains

4HBT_3aa 45–129UCSCAcyl-CoA thioesterase N-terminal domain
4HBT_3Caa 159–308UCSCAcyl-CoA thioesterase C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA thioesterase 8

HGNC Previous Symbol

PTE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005469.4
p.Q197_M201del0
c.591_602del12
Surrounding Variants
1 paper
NM_005469.4
p.S196_P203delFs
c.586_607del22
1 paper
NM_005469.4
p.S196_Q199delFs
c.588_595del8
1 paper
NM_005469.4
p.P192_K204delFs
c.576_610del35
1 paper
NM_005469.4
p.Q197_L198delFs
c.589_592del4
1 paper
NM_005469.4
p.P192_Q205del0
c.576_614del39
1 paper
NM_005469.4
p.R210*
c.628C>T
1 paper
NM_005469.4
p.E182K
c.544G>A
1 paper
NM_005469.4
p.Q181Q
c.543G>A
1 paper
NM_005469.4
p.Q181_E182insT
c.541_545ins3
1 paper
NM_005469.4
p.L173fs
c.517_518fs
1 paper
NM_005469.4
p.G237A
c.710G>C
1 paper
NM_005469.4
p.S258P
c.772T>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."