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.F323fs

c.967_968fs

Surrounding Variants

1 paper

NM_000098.3

p.F323delFs

c.968_969delTC

1 paper

NM_000098.3

p.V322L

c.964G>C

1 paper

NM_000098.3

p.L325L

c.975C>A

2 papers

NM_000098.3

p.C326Y

c.977G>A

1 paper

NM_000098.3

p.V318E

c.953T>A

14 papers

NM_000098.3

p.D328G

c.983A>G

1 paper

NM_000098.3

p.K317E

c.949A>G

1 paper

NM_000098.3

p.D329_F330insFs

c.986_989dup4

2 papers

NM_000098.3

p.D329Y

c.985G>T

5 papers

NM_000098.3

p.F330insFs

c.988dupT

1 paper

NM_000098.3

p.R316K

c.947G>A

1 paper

NM_000098.3

p.R316G

c.946A>G