Varaico: Literature-Extracted Genetic Variants

Gene:ACOT9
Variant:p.L302L

ACOT9

28 papers

RefSeq Summary

The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, M...

Pfam Domains

4HBTaa 307–378UCSCThioesterase superfamily
4HBTaa 307–378UCSCThioesterase superfamily

Gene Aliases

HGNC Name

acyl-CoA thioesterase 9

HGNC Alias Symbols

CGI-16; MT-ACT48; ACATE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001037171.2
p.L302L
c.904C>T
Surrounding Variants
1 paper
NM_001037171.2
p.C308Y
c.923G>A
1 paper
NM_001037171.2
p.E312Q
c.934G>C
1 paper
NM_001037171.2
p.R318Q
c.953G>A
1 paper
NM_001033583.3
p.G312R
c.934G>C
1 paper
NM_001037171.2
p.L364F
c.1090C>T
1 paper
NM_001037171.2
p.S253S
c.759C>T
1 paper
NM_001037171.2
p.Q390*
c.1168C>T
1 paper
NM_001037171.2
p.Q428*
c.1282C>T
1 paper
NM_001037171.2
p.S433C
c.1298C>G
1 paper
NM_001037171.2
p.P222L
c.665C>T
1 paper
NM_001037171.2
p.A214G
c.641C>G
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