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.K39E

c.115A>G

Surrounding Variants

1 paper

NM_005891.3

p.L42F

c.126G>C

1 paper

NM_005891.3

p.L42F

c.126G>T

1 paper

NM_005891.3

p.E50D

c.150A>T

1 paper

NM_005891.3

p.A26V

c.77C>T

1 paper

NM_005891.3

p.G19_S20ins16

c.57_58ins48

1 paper

NM_005891.3

p.G64Splc

c.190+1G>T

1 paper

NM_005891.3

p.I10delFs

c.29delT

1 paper

NM_005891.3

p.D6delFs

c.16delG

1 paper

NM_005891.3

p.M1I

c.3G>A

1 paper

NM_005891.3

p.M1K

c.2T>A

2 papers

NM_005891.3

p.A73T

c.217G>A

1 paper

NM_005891.3

p.C88S

c.262T>A