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

2 papers

NM_000098.3

p.N311S

c.932A>G

Surrounding Variants

1 paper

NM_000098.3

p.G310G

c.930C>T

1 paper

NM_000098.3

p.M307_S308del1

c.921_923delGAG

1 paper

NM_000098.3

p.R316G

c.946A>G

1 paper

NM_000098.3

p.R316K

c.947G>A

1 paper

NM_000098.3

p.K317E

c.949A>G

1 paper

NM_000098.3

p.Q304H

c.912G>C

1 paper

NM_000098.3

p.Q304H

c.912G>T

1 paper

NM_000098.3

p.Q304R

c.911A>G

1 paper

NM_000098.3

p.V318E

c.953T>A

1 paper

NM_000098.3

p.R303fs

c.907_908fs

2 papers

NM_000098.3

p.L302L

c.906C>T

5 papers

NM_000098.3

p.L302fs

c.904_905fs