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.T589M

c.1766C>T

Surrounding Variants

8 papers

NM_000098.3

p.S588C

c.1763C>G

3 papers

NM_000098.3

p.S590N

c.1769G>A

1 paper

NM_000098.3

p.N585S

c.1754A>G

3 papers

NM_000098.3

p.S594delFs

c.1782delC

5 papers

NM_000098.3

p.P595fs

c.1783_1784fs

1 paper

NM_000098.3

p.Q581*

c.1741C>T

2 papers

NM_000098.3

p.Y579*

c.1737C>A

1 paper

NM_000098.3

p.Y579*

c.1737C>G

1 paper

NM_000098.3

p.Y579delFs

c.1737delC

1 paper

NM_000098.3

p.L599P

c.1796T>C

7 papers

NM_000098.3

p.G600R

c.1798G>A

7 papers

NM_000098.3

p.G600R

c.1798G>C