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.I160V

c.478A>G

Surrounding Variants

15 papers

NM_000098.3

p.R161W

c.481C>T

3 papers

NM_000098.3

p.R161Q

c.482G>A

1 paper

NM_000098.3

p.A159delFs

c.475delG

1 paper

NM_000098.3

p.T156I

c.467C>T

4 papers

NM_000098.3

p.K164*

c.490A>T

1 paper

NM_000098.3

p.T165S

c.493A>T

1 paper

NM_000098.3

p.L166L

c.498C>G

5 papers

NM_000098.3

p.R167Q

c.500G>A

1 paper

NM_000098.3

p.A168T

c.502G>A

1 paper

NM_000098.3

p.A168_L170delins

c.502_508delinsT

20 papers

NM_000098.3

p.R151Q

c.452G>A

1 paper

NM_000098.3

p.R151L

c.452G>T