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.A474P

c.1420G>C

Surrounding Variants

4 papers

NM_000098.3

p.R477W

c.1429C>T

1 paper

NM_000098.3

p.R477L

c.1430G>T

1 paper

NM_000098.3

p.Q478*

c.1432C>T

2 papers

NM_000098.3

p.A470S

c.1408G>T

4 papers

NM_000098.3

p.Y479C

c.1436A>G

12 papers

NM_000098.3

p.Y479F

c.1436A>T

1 paper

NM_000098.3

p.Y479*

c.1437C>A

1 paper

NM_000098.3

p.Y479*

c.1437C>G

1 paper

NM_000098.3

p.Q468*

c.1402C>T

7 papers

NM_000098.3

p.G480R

c.1438G>A

7 papers

NM_000098.3

p.G480R

c.1438G>C

1 paper

NM_000098.3

p.A467A

c.1401C>T