Varaico: Literature-Extracted Genetic Variants

CPT2

656 papers

RefSeq Summary

The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain ...

Pfam Domains

Carn_acyltransfaa 52–525UCSCCholine/Carnitine o-acyltransferase

Carn_acyltransfaa 520–619UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine palmitoyltransferase 2

HGNC Previous Symbol

CPT1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 480 variants

234 papers

NM_000098.3

p.S113L

c.338C>T

85 papers

NM_000098.3

p.V368I

c.1102G>A

64 papers

NM_000098.3

p.P50H

c.149C>A

61 papers

NM_000098.3

p.F352C

c.1055T>G

51 papers

NM_000098.3

p.R631C

c.1891C>T

49 papers

NM_000098.3

p.M647V

c.1939A>G

40 papers

NM_000098.3

p.F383Y

c.1148T>A

40 papers

NM_000098.3

p.R503C

c.1507C>T

28 papers

NM_000098.3

p.F448L

c.1344T>A

28 papers

NM_000098.3

p.F448L

c.1344T>G

27 papers

NM_000098.3

p.F448L

c.1342T>C

25 papers

NM_000098.3

p.Y628S

c.1883A>C