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.F417I

c.1249T>A

Surrounding Variants

5 papers

NM_000098.3

p.K414fs

c.1240_1241fs

2 papers

NM_000098.3

p.K414fs

c.1240_1241fs

1 paper

NM_000098.3

p.Q413Q

c.1239G>A

19 papers

NM_000098.3

p.Q413fs

c.1237_1238fs

17 papers

NM_000098.3

p.Q413_K414delFs

c.1239_1240delGA

1 paper

NM_000098.3

p.Q413fs

c.1237_1238fs

1 paper

NM_000098.3

p.Q413delins

c.1237_1239delinsTTT

1 paper

NM_000098.3

p.D421N

c.1261G>A

1 paper

NM_000098.3

p.Q413delFs

c.1237_1238delCA

1 paper

NM_000098.3

p.V412L

c.1234G>T

1 paper

NM_000098.3

p.V410I

c.1228G>A

1 paper

NM_000098.3

p.K424R

c.1271A>G