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.A515P

c.1543G>C

Surrounding Variants

2 papers

NM_000098.3

p.A515fs

c.1543_1544fs

2 papers

NM_000098.3

p.A515_F516delFs

c.1543_1546del4

6 papers

NM_000098.3

p.F516S

c.1547T>C

1 paper

NM_000098.3

p.E519delFs

c.1556_1557delAG

1 paper

NM_000098.3

p.E519_E534delFs

c.1555_1601del47

1 paper

NM_000098.3

p.P520L

c.1559C>T

2 papers

NM_000098.3

p.T509A

c.1525A>G

1 paper

NM_000098.3

p.S521Y

c.1562C>A

4 papers

NM_000098.3

p.H523_S524delFs

c.1569_1570delCA

2 papers

NM_000098.3

p.H523fs

c.1567_1568fs

1 paper

NM_000098.3

p.V507I

c.1519G>A

1 paper

NM_000098.3

p.A505_Y508del4

c.1513_1523del12