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

2 papers

NM_000098.3

p.P173S

c.517C>T

Surrounding Variants

1 paper

NM_000098.3

p.P173L

c.518C>T

1 paper

NM_000098.3

p.P173delFs

c.517delC

24 papers

NM_000098.3

p.E174K

c.520G>A

1 paper

NM_000098.3

p.V175M

c.523G>A

1 paper

NM_000098.3

p.L170H

c.509T>A

1 paper

NM_000098.3

p.G169D

c.506G>A

1 paper

NM_000098.3

p.G169fs

c.505_506fs

1 paper

NM_000098.3

p.G169_L170delFs

c.505_508del4

3 papers

NM_000098.3

p.L178insFs

c.533_534insT

1 paper

NM_000098.3

p.A168T

c.502G>A

1 paper

NM_000098.3

p.A168_L170delins

c.502_508delinsT

2 papers

NM_000098.3

p.L178_I186delFs

c.534_558del25