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.G600R

c.1798G>C

Surrounding Variants

7 papers

NM_000098.3

p.G600R

c.1798G>A

1 paper

NM_000098.3

p.L599P

c.1796T>C

1 paper

NM_000098.3

p.G601delFs

c.1803delC

1 paper

NM_000098.3

p.F602delFs

c.1806delT

2 papers

NM_000098.3

p.F602fs

c.1804_1805fs

1 paper

NM_000098.3

p.F602F

c.1806T>C

8 papers

NM_000098.3

p.P604S

c.1810C>T

1 paper

NM_000098.3

p.P604delFs

c.1811_1812delCT

5 papers

NM_000098.3

p.P595fs

c.1783_1784fs

14 papers

NM_000098.3

p.V605L

c.1813G>C

12 papers

NM_000098.3

p.V605L

c.1813G>T

3 papers

NM_000098.3

p.S594delFs

c.1782delC