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.S215P

c.643T>C

Surrounding Variants

1 paper

NM_000098.3

p.S215F

c.644C>T

10 papers

NM_000098.3

p.M214T

c.641T>C

2 papers

NM_000098.3

p.Q216R

c.647A>G

5 papers

NM_000098.3

p.D213G

c.638A>G

2 papers

NM_000098.3

p.D213N

c.637G>A

1 paper

NM_000098.3

p.L212insFs

c.634_635insT

1 paper

NM_000098.3

p.P211fs

c.631_632fs

1 paper

NM_000098.3

p.R219Q

c.656G>A

4 papers

NM_000098.3

p.Y210D

c.628T>G

2 papers

NM_000098.3

p.A209V

c.626C>T

2 papers

NM_000098.3

p.A209T

c.625G>A

1 paper

NM_000098.3

p.N208K

c.624T>A