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

234 papers

NM_000098.3

p.S113L

c.338C>T

Surrounding Variants

1 paper

NM_000098.3

p.G114R

c.340G>A

1 paper

NM_000098.3

p.G114R

c.340G>C

4 papers

NM_000098.3

p.G114Splc

c.340+1G>A

1 paper

NM_000098.3

p.I112_S113insGC

c.334_338ins6

7 papers

NM_000098.3

p.G114Splc

c.340+5G>A

1 paper

NM_000098.3

p.K107K

c.321A>G

1 paper

NM_000098.3

p.K107R

c.320A>G

1 paper

NM_000098.3

p.Q105K

c.313C>A

2 papers

NM_000098.3

p.Q105*

c.313C>T

7 papers

NM_000098.3

p.A101V

c.302C>T

1 paper

NM_000098.3

p.V100fs

c.298_299fs

1 paper

NM_000098.3

p.L99P

c.296T>C