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

7 papers

NM_000098.3

p.E487K

c.1459G>A

Surrounding Variants

1 paper

NM_000098.3

p.E487*

c.1459G>T

2 papers

NM_000098.3

p.E487A

c.1460A>C

1 paper

NM_000098.3

p.E487D

c.1461G>C

1 paper

NM_000098.3

p.E487D

c.1461G>T

1 paper

NM_000098.3

p.S488F

c.1463C>T

1 paper

NM_000098.3

p.T482fs

c.1444_1445fs

1 paper

NM_000098.3

p.T482fs

c.1444_1445fs

1 paper

NM_000098.3

p.Q481Q

c.1443G>A

1 paper

NM_000098.3

p.A493T

c.1477G>A

4 papers

NM_000098.3

p.T482_V483delFs

c.1444_1447del4

7 papers

NM_000098.3

p.G480R

c.1438G>A

7 papers

NM_000098.3

p.G480R

c.1438G>C