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.A465S

c.1393G>T

Surrounding Variants

1 paper

NM_000098.3

p.A465T

c.1393G>A

1 paper

NM_000098.3

p.D464A

c.1391A>C

3 papers

NM_000098.3

p.A467G

c.1400C>G

1 paper

NM_000098.3

p.A467A

c.1401C>T

1 paper

NM_000098.3

p.S462fs

c.1384_1385fs

1 paper

NM_000098.3

p.Q468*

c.1402C>T

1 paper

NM_000098.3

p.S462_V466delFs

c.1384_1396del13

2 papers

NM_000098.3

p.A470S

c.1408G>T

1 paper

NM_000098.3

p.Q459insFs

c.1375dupC

1 paper

NM_000098.3

p.K458Q

c.1372A>C

1 paper

NM_000098.3

p.K457R

c.1370A>G

9 papers

NM_000098.3

p.K457*

c.1369A>T