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.A136S

c.406G>T

Surrounding Variants

1 paper

NM_000098.3

p.A136A

c.408T>A

1 paper

NM_000098.3

p.P133S

c.397C>T

1 paper

NM_000098.3

p.D140delFs

c.419delA

1 paper

NM_000098.3

p.N130D

c.388A>G

1 paper

NM_000098.3

p.L129_N130insFs

c.387_388insA

1 paper

NM_000098.3

p.K142K

c.426A>G

1 paper

NM_000098.3

p.E144delFs

c.431_432delAG

6 papers

NM_000098.3

p.N146T

c.437A>C

1 paper

NM_000098.3

p.D125A

c.374A>C

8 papers

NM_000098.3

p.R124Q

c.371G>A

2 papers

NM_000098.3

p.R124P

c.371G>C

18 papers

NM_000098.3

p.R124*

c.370C>T