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.G203G

c.609G>A

Surrounding Variants

1 paper

NM_000098.3

p.Y205C

c.614A>G

1 paper

NM_000098.3

p.Y205*

c.615C>A

1 paper

NM_000098.3

p.Y205*

c.615C>G

2 papers

NM_000098.3

p.W201*

c.603G>A

2 papers

NM_000098.3

p.W201*

c.602G>A

1 paper

NM_000098.3

p.N208_Y210del3

c.622_629del9

1 paper

NM_000098.3

p.N208K

c.624T>A

1 paper

NM_000098.3

p.N208K

c.624T>G

1 paper

NM_000098.3

p.S198C

c.593C>G

2 papers

NM_000098.3

p.A209T

c.625G>A

2 papers

NM_000098.3

p.A209V

c.626C>T

4 papers

NM_000098.3

p.Y210D

c.628T>G