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.P196P

c.588T>C

Surrounding Variants

1 paper

NM_000098.3

p.P196T

c.586C>A

1 paper

NM_000098.3

p.P196delFs

c.587delC

1 paper

NM_000098.3

p.S198C

c.593C>G

1 paper

NM_000098.3

p.F194S

c.581T>C

1 paper

NM_000098.3

p.R193ins1

c.578_579insTCA

5 papers

NM_000098.3

p.R193C

c.577C>T

2 papers

NM_000098.3

p.W201*

c.602G>A

2 papers

NM_000098.3

p.W201*

c.603G>A

1 paper

NM_000098.3

p.R190K

c.569G>A

1 paper

NM_000098.3

p.G203G

c.609G>A

1 paper

NM_000098.3

p.F188S

c.563T>C

1 paper

NM_000098.3

p.Y205C

c.614A>G