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.K458Q

c.1372A>C

Surrounding Variants

1 paper

NM_000098.3

p.K457R

c.1370A>G

1 paper

NM_000098.3

p.Q459insFs

c.1375dupC

9 papers

NM_000098.3

p.K457*

c.1369A>T

1 paper

NM_000098.3

p.S462_V466delFs

c.1384_1396del13

1 paper

NM_000098.3

p.E454G

c.1361A>G

1 paper

NM_000098.3

p.S462fs

c.1384_1385fs

2 papers

NM_000098.3

p.E454*

c.1360G>T

1 paper

NM_000098.3

p.K453R

c.1358A>G

1 paper

NM_000098.3

p.D464A

c.1391A>C

3 papers

NM_000098.3

p.G451E

c.1352G>A

1 paper

NM_000098.3

p.A465T

c.1393G>A

1 paper

NM_000098.3

p.A465S

c.1393G>T