Varaico: Literature-Extracted Genetic Variants

ACAT2

83 papers

RefSeq Summary

The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gen...

Pfam Domains

Thiolase_Naa 8–267UCSCThiolase, N-terminal domain

Thiolase_Caa 274–396UCSCThiolase, C-terminal domain

Gene Aliases

HGNC Name

acetyl-CoA acetyltransferase 2

HGNC Previous Names

acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase); acetyl-Coenzyme A acetyltransferase 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005891.3

p.C88S

c.263G>C

Surrounding Variants

1 paper

NM_005891.3

p.C88S

c.262T>A

1 paper

NM_005891.3

p.M90I

c.270G>A

1 paper

NM_005891.3

p.M90I

c.270G>C

1 paper

NM_005891.3

p.M90I

c.270G>T

2 papers

NM_005891.3

p.A73T

c.217G>A

1 paper

NM_005891.3

p.E120D

c.360A>T

1 paper

NM_005891.3

p.K124_A125Splc

c.372+3A>G

1 paper

NM_005891.3

p.H127L

c.380A>T

1 paper

NM_005891.3

p.G134E

c.401G>A

1 paper

NM_005891.3

p.D144A

c.431A>C

1 paper

NM_005891.3

p.H159Y

c.475C>T

1 paper

NM_005891.3

p.H159L

c.476A>T