Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.Y256Y

ACAT1

226 papers

RefSeq Summary

This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolas...

Pfam Domains

Thiolase_Naa 1–209UCSCThiolase, N-terminal domain
Thiolase_Caa 216–336UCSCThiolase, C-terminal domain

Gene Aliases

HGNC Name

acetyl-CoA acetyltransferase 1

HGNC Alias Symbol

THIL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000019.4
p.Y256Y
c.768T>C
Surrounding Variants
1 paper
NM_000019.4
p.K257T
c.770A>C
1 paper
NM_000019.4
p.Y256N
c.766T>A
4 papers
NM_000019.4
p.E255D
c.765A>C
4 papers
NM_000019.4
p.E255D
c.765A>T
5 papers
NM_000019.4
p.E255A
c.764A>C
1 paper
NM_000019.4
p.E255V
c.764A>T
4 papers
NM_000019.4
p.R258C
c.772C>T
1 paper
NM_000019.4
p.E255*
c.763G>T
1 paper
NM_000019.4
p.E254E
c.762A>G
1 paper
NM_000019.4
p.R258R
c.774T>G
1 paper
NM_000019.4
p.V259_D260insFs
c.777_778insT
3 papers
NM_000019.4
p.E254K
c.760G>A
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