Varaico: Literature-Extracted Genetic Variants

Gene:ACOT8
Variant:p.H288Y

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
2 papers
NM_005469.4
p.H288Y
c.862C>T
Surrounding Variants
1 paper
NM_005469.4
p.V287F
c.859G>T
1 paper
NM_005469.4
p.R290P
c.869G>C
1 paper
NM_005469.4
p.R284Q
c.851G>A
1 paper
NM_005469.4
p.R293H
c.878G>A
1 paper
NM_005469.4
p.A299P
c.895G>C
1 paper
NM_005469.4
p.I308M
c.924C>G
1 paper
NM_005469.4
p.S315*
c.944C>G
1 paper
NM_005469.4
p.S315*
c.944C>A
1 paper
NM_005469.4
p.E276K
c.826G>A
2 papers
NM_005469.4
p.R266*
c.796C>T
1 paper
NM_005469.4
p.F265L
c.795C>G
1 paper
NM_005469.4
p.F265L
c.795C>A
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