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

Selected Variant

1 paper

NM_000098.3

p.E500A

c.1499A>C

Surrounding Variants

1 paper

NM_000098.3

p.E500D

c.1500G>C

1 paper

NM_000098.3

p.E500D

c.1500G>T

1 paper

NM_000098.3

p.T499S

c.1496C>G

1 paper

NM_000098.3

p.T499S

c.1495A>T

1 paper

NM_000098.3

p.R498H

c.1493G>A

3 papers

NM_000098.3

p.R498L

c.1493G>T

8 papers

NM_000098.3

p.I502T

c.1505T>C

1 paper

NM_000098.3

p.R498C

c.1492C>T

40 papers

NM_000098.3

p.R503C

c.1507C>T

2 papers

NM_000098.3

p.R503H

c.1508G>A

3 papers

NM_000098.3

p.G497S

c.1489G>A

15 papers

NM_000098.3

p.P504L

c.1511C>T