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.M1R

c.2T>G

Surrounding Variants

1 paper

NM_000098.3

p.M1T

c.2T>C

3 papers

NM_000098.3

p.M1V

c.1A>G

1 paper

NM_000098.3

p.M1I

c.3G>C

2 papers

NM_000098.3

p.V2M

c.4G>A

1 paper

NM_000098.3

p.V2G

c.5T>G

1 paper

NM_000098.3

p.V2V

c.6G>A

1 paper

NM_000098.3

p.R4S

c.10C>A

1 paper

NM_000098.3

p.R8R

c.24C>A

1 paper

NM_000098.3

p.A9V

c.26C>T

1 paper

NM_000098.3

p.W10ins2

c.28_29ins6

1 paper

NM_000098.3

p.R12_A15insFs

c.36_43dup8

1 paper

NM_000098.3

p.R12W

c.34C>T