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

64 papers

NM_000098.3

p.P50H

c.149C>A

Surrounding Variants

2 papers

NM_000098.3

p.P50S

c.148C>T

2 papers

NM_000098.3

p.R51G

c.151A>G

1 paper

NM_000098.3

p.R51K

c.152G>A

1 paper

NM_000098.3

p.L49M

c.145C>A

3 papers

NM_000098.3

p.Q46R

c.137A>G

2 papers

NM_000098.3

p.Q46*

c.136C>T

1 paper

NM_000098.3

p.M43I

c.129G>A

1 paper

NM_000098.3

p.M43I

c.129G>C

1 paper

NM_000098.3

p.M43I

c.129G>T

2 papers

NM_000098.3

p.T42I

c.125C>T

2 papers

NM_000098.3

p.P41L

c.122C>T

1 paper

NM_000098.3

p.V40A

c.119T>C