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.T189A

c.565A>G

Surrounding Variants

1 paper

NM_005891.3

p.N191H

c.571A>C

1 paper

NM_005891.3

p.E176K

c.526G>A

2 papers

NM_005891.3

p.P204S

c.610C>T

1 paper

NM_005891.3

p.V173M

c.517G>A

7 papers

NM_005891.3

p.K211R

c.632A>G

1 paper

NM_005891.3

p.A164Splc

c.491-28G>A

1 paper

NM_005891.3

p.D219N

c.655G>A

1 paper

NM_005891.3

p.S226N

c.677G>A

3 papers

NM_005891.3

p.T245I

c.734C>T

6 papers

NM_005891.3

p.S252insFs

c.754_755insCT

1 paper

NM_005891.3

p.A259_A260insFs

c.777_778insT

1 paper

NM_005891.3

p.M264T

c.791T>C