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.G13ins1

c.38_39insGCC

Surrounding Variants

3 papers

NM_000098.3

p.G13insFs

c.38_39insGC

1 paper

NM_000098.3

p.G13fs

c.37_38fs

1 paper

NM_000098.3

p.G13C

c.37G>T

1 paper

NM_000098.3

p.R12W

c.34C>T

1 paper

NM_000098.3

p.G13delFs

c.38delG

1 paper

NM_000098.3

p.A15fs

c.43_44fs

1 paper

NM_000098.3

p.W10ins2

c.28_29ins6

1 paper

NM_000098.3

p.R12_A15insFs

c.36_43dup8

1 paper

NM_000098.3

p.A9V

c.26C>T

1 paper

NM_000098.3

p.R8R

c.24C>A

2 papers

NM_000098.3

p.P21insFs

c.63dupC

1 paper

NM_000098.3

p.P21H

c.62C>A