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.K239R

c.716A>G

Surrounding Variants

1 paper

NM_000098.3

p.A240_R241del2

c.718_722del6

1 paper

NM_000098.3

p.A240T

c.718G>A

1 paper

NM_000098.3

p.D238G

c.713A>G

2 papers

NM_000098.3

p.R241G

c.721A>G

4 papers

NM_000098.3

p.L243_L244del1

c.729_731delCCT

1 paper

NM_000098.3

p.L243F

c.727C>T

2 papers

NM_000098.3

p.L243_L244insFs

c.729_730insTT

4 papers

NM_000098.3

p.L244del1

c.730_731delCTG

3 papers

NM_000098.3

p.R247W

c.739A>T

1 paper

NM_000098.3

p.R231Q

c.692G>A

12 papers

NM_000098.3

p.R231W

c.691C>T

1 paper

NM_000098.3

p.G249delFs

c.745delG