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.G28C

c.82G>T

Surrounding Variants

1 paper

NM_000098.3

p.G28_S29ins6

c.82_86ins18

1 paper

NM_000098.3

p.G28_Q36delFs

c.84_108del25

1 paper

NM_000098.3

p.A27T

c.79G>A

1 paper

NM_000098.3

p.S26N

c.77G>A

1 paper

NM_000098.3

p.L25L

c.75C>A

1 paper

NM_000098.3

p.R23L

c.68G>T

2 papers

NM_000098.3

p.Q33fs

c.97_98fs

4 papers

NM_000098.3

p.Q33delFs

c.98delA

1 paper

NM_000098.3

p.S22G

c.64A>G

1 paper

NM_000098.3

p.P21H

c.62C>A

1 paper

NM_000098.3

p.L35R

c.104T>G

1 paper

NM_000098.3

p.Q36*

c.106C>T