Varaico: Literature-Extracted Genetic Variants

Gene:ACOT8
Variant:p.V49delFs

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.V49delFs
c.145delC
Surrounding Variants
1 paper
NM_005469.4
p.W48C
c.144G>T
1 paper
NM_005469.4
p.W48C
c.144G>C
1 paper
NM_005469.4
p.W48*
c.144G>A
1 paper
NM_005469.4
p.P50L
c.149C>T
1 paper
NM_005469.4
p.R45R
c.135G>A
1 paper
NM_005469.4
p.G56_G57insG
c.166_170ins3
1 paper
NM_005469.4
p.Q58E
c.172C>G
1 paper
NM_005469.4
p.Q58Q
c.174G>A
1 paper
NM_005469.4
p.V60V
c.180G>A
1 paper
NM_005469.4
p.G61insFs
c.181_182insT
1 paper
NM_005469.4
p.G61S
c.181G>A
1 paper
NM_005469.4
p.G61delFs
c.182delC
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