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

49 papers

NM_000098.3

p.M647V

c.1939A>G

Surrounding Variants

1 paper

NM_000098.3

p.E645insFs

c.1933_1934insA

1 paper

NM_000098.3

p.E645fs

c.1933_1934fs

1 paper

NM_000098.3

p.E645*

c.1933G>T

1 paper

NM_000098.3

p.E645fs

c.1933_1934fs

5 papers

NM_000098.3

p.L644S

c.1931T>C

2 papers

NM_000098.3

p.L644_E645insFs

c.1932_1933insA

1 paper

NM_000098.3

p.K642fs

c.1924_1925fs

3 papers

NM_000098.3

p.E641fs

c.1921_1922fs

6 papers

NM_000098.3

p.E641_E645delFs

c.1923_1935del13

1 paper

NM_000098.3

p.V640V

c.1920G>T

1 paper

NM_000098.3

p.S658R

c.1972A>C

1 paper

NM_000098.3

p.S658R

c.1974T>A