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.T150_R151delFs

c.449_452del4

Surrounding Variants

1 paper

NM_000098.3

p.T150fs

c.448_449fs

9 papers

NM_000098.3

p.R151W

c.451C>T

20 papers

NM_000098.3

p.R151Q

c.452G>A

1 paper

NM_000098.3

p.R151L

c.452G>T

6 papers

NM_000098.3

p.N146T

c.437A>C

1 paper

NM_000098.3

p.T156I

c.467C>T

1 paper

NM_000098.3

p.E144delFs

c.431_432delAG

1 paper

NM_000098.3

p.K142K

c.426A>G

1 paper

NM_000098.3

p.A159delFs

c.475delG

2 papers

NM_000098.3

p.I160V

c.478A>G

1 paper

NM_000098.3

p.D140delFs

c.419delA

15 papers

NM_000098.3

p.R161W

c.481C>T