Varaico: Literature-Extracted Genetic Variants

Gene:ACOT8
Variant:p.S3Y

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.S3Y
c.8C>A
Surrounding Variants
1 paper
NM_005469.4
p.S2L
c.5C>T
2 papers
NM_005469.4
p.M1fs
c.1_2fs
1 paper
NM_005469.4
p.A6A
c.18C>A
1 paper
NM_005469.4
p.G17G
c.51C>T
1 paper
NM_005469.4
p.P19S
c.55C>T
1 paper
NM_005469.4
p.P19insFs
c.56_57insG
1 paper
NM_005469.4
p.R24G
c.70C>G
1 paper
NM_005469.4
p.R24H
c.71G>A
1 paper
NM_005469.4
p.V26D
c.77T>A
1 paper
NM_005469.4
p.L27F
c.81G>T
1 paper
NM_005469.4
p.N33delFs
c.97delT
1 paper
NM_005469.4
p.P36P
c.108G>C
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