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.C445R

c.1333T>C

Surrounding Variants

3 papers

NM_000098.3

p.V446I

c.1336G>A

2 papers

NM_000098.3

p.V446F

c.1336G>T

3 papers

NM_000098.3

p.Q447*

c.1339C>T

27 papers

NM_000098.3

p.F448L

c.1342T>C

28 papers

NM_000098.3

p.F448L

c.1344T>A

28 papers

NM_000098.3

p.F448L

c.1344T>G

1 paper

NM_000098.3

p.Q449_G452del4

c.1345_1355del12

2 papers

NM_000098.3

p.Q449K

c.1345C>A

3 papers

NM_000098.3

p.Q449*

c.1345C>T

3 papers

NM_000098.3

p.R450*

c.1348A>T

1 paper

NM_000098.3

p.R450K

c.1349G>A

1 paper

NM_000098.3

p.K439*

c.1315A>T