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

1–12 of 58 variants

7 papers

NM_005891.3

p.K211R

c.632A>G

6 papers

NM_005891.3

p.S252insFs

c.754_755insCT

3 papers

NM_005891.3

p.T245I

c.734C>T

2 papers

NM_005891.3

p.A73T

c.217G>A

2 papers

NM_005891.3

p.P204S

c.610C>T

2 papers

NM_005891.3

p.S284C

c.851C>G

2 papers

NM_005891.3

p.L363I

c.1087C>A

1 paper

NM_005891.3

p.M1K

c.2T>A

1 paper

NM_005891.3

p.M1I

c.3G>A

1 paper

NM_005891.3

p.D6delFs

c.16delG

1 paper

NM_005891.3

p.I10delFs

c.29delT

1 paper

NM_005891.3

p.G19_S20ins16

c.57_58ins48