Varaico: Literature-Extracted Genetic Variants

Gene:ACOT9

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
1–12 of 19 variants
1 paper
NM_001037171.2
p.A10delFs
c.30delG
1 paper
NM_001037171.2
p.K13R
c.38A>G
1 paper
NM_001037171.2
p.L16F
c.46C>T
1 paper
NM_001037171.2
p.P26S
c.76C>T
1 paper
NM_001037171.2
p.P88T
c.262C>A
1 paper
NM_001037171.2
p.Q117*
c.349C>T
1 paper
NM_001037171.2
p.I125delFs
c.374delA
1 paper
NM_001037171.2
p.A214G
c.641C>G
1 paper
NM_001037171.2
p.P222L
c.665C>T
1 paper
NM_001037171.2
p.S253S
c.759C>T
1 paper
NM_001037171.2
p.L302L
c.904C>T
1 paper
NM_001037171.2
p.C308Y
c.923G>A
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