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.L556delFs

c.1666_1667delTT

Surrounding Variants

1 paper

NM_000098.3

p.H555Q

c.1665C>A

1 paper

NM_000098.3

p.H555Q

c.1665C>G

1 paper

NM_000098.3

p.L556V

c.1666T>G

1 paper

NM_000098.3

p.L556fs

c.1666_1667fs

3 papers

NM_000098.3

p.R554*

c.1660C>T

16 papers

NM_000098.3

p.D553N

c.1657G>A

2 papers

NM_000098.3

p.R560W

c.1678C>T

6 papers

NM_000098.3

p.R560Q

c.1679G>A

5 papers

NM_000098.3

p.Q550R

c.1649A>G

6 papers

NM_000098.3

p.G549D

c.1646G>A

1 paper

NM_000098.3

p.G549Splc

c.1646-1G>T

2 papers

NM_000098.3

p.G549_Q550delFs

c.1646_1649del4