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.A326S

c.976G>T

Surrounding Variants

1 paper

NM_005891.3

p.A323G

c.968C>G

1 paper

NM_005891.3

p.A329S

c.985G>T

1 paper

NM_005891.3

p.K333E

c.997A>G

1 paper

NM_005891.3

p.F318Y

c.953T>A

1 paper

NM_005891.3

p.K341_V342Splc

c.1024-4T>C

1 paper

NM_005891.3

p.H353N

c.1057C>A

2 papers

NM_005891.3

p.L363I

c.1087C>A

1 paper

NM_005891.3

p.R377C

c.1129C>T

1 paper

NM_005891.3

p.A380T

c.1138G>A

1 paper

NM_005891.3

p.L382M

c.1144C>A

1 paper

NM_005891.3

p.I292V

c.874A>G

1 paper

NM_005891.3

p.E289D

c.867G>C