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.F286Y

c.857T>A

Surrounding Variants

1 paper

NM_000098.3

p.E285G

c.854A>G

1 paper

NM_000098.3

p.E285K

c.853G>A

1 paper

NM_000098.3

p.E285*

c.853G>T

1 paper

NM_000098.3

p.E285fs

c.853_854fs

1 paper

NM_000098.3

p.P284R

c.851C>G

1 paper

NM_000098.3

p.P284_E285delFs

c.852_855del4

1 paper

NM_000098.3

p.P284S

c.850C>T

2 papers

NM_000098.3

p.A283T

c.847G>A

1 paper

NM_000098.3

p.A283delFs

c.848delC

3 papers

NM_000098.3

p.Y290*

c.870C>A

3 papers

NM_000098.3

p.Y290*

c.870C>G

1 paper

NM_000098.3

p.T292S

c.875C>G