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.P399S

c.1195C>T

Surrounding Variants

1 paper

NM_000098.3

p.P403L

c.1208C>T

2 papers

NM_000098.3

p.S391G

c.1171A>G

1 paper

NM_000098.3

p.K389I

c.1166A>T

1 paper

NM_000098.3

p.K389E

c.1165A>G

1 paper

NM_000098.3

p.T409I

c.1226C>T

1 paper

NM_000098.3

p.F388Y

c.1163T>A

1 paper

NM_000098.3

p.V410I

c.1228G>A

1 paper

NM_000098.3

p.E386D

c.1158A>T

1 paper

NM_000098.3

p.V412L

c.1234G>T

1 paper

NM_000098.3

p.Q413delFs

c.1237_1238delCA

19 papers

NM_000098.3

p.Q413fs

c.1237_1238fs

17 papers

NM_000098.3

p.Q413_K414delFs

c.1239_1240delGA