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.K431_E432del2

c.1291_1295del6

Surrounding Variants

2 papers

NM_000098.3

p.F434S

c.1301T>C

1 paper

NM_000098.3

p.T425fs

c.1273_1274fs

3 papers

NM_000098.3

p.T425delFs

c.1273_1274delAC

1 paper

NM_000098.3

p.K424R

c.1271A>G

1 paper

NM_000098.3

p.M438V

c.1312A>G

1 paper

NM_000098.3

p.K439*

c.1315A>T

1 paper

NM_000098.3

p.D421N

c.1261G>A

1 paper

NM_000098.3

p.F417I

c.1249T>A

2 papers

NM_000098.3

p.C445R

c.1333T>C

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