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

3 papers

NM_000098.3

p.Y538delFs

c.1613delA

Surrounding Variants

2 papers

NM_000098.3

p.Y538fs

c.1612_1613fs

1 paper

NM_000098.3

p.V533A

c.1598T>C

2 papers

NM_000098.3

p.V533_E534insT

c.1597_1601ins3

3 papers

NM_000098.3

p.E545_A546del1

c.1634_1636delAAG

7 papers

NM_000098.3

p.E545A

c.1634A>C

1 paper

NM_000098.3

p.A547T

c.1639G>A

2 papers

NM_000098.3

p.E527K

c.1579G>A

18 papers

NM_000098.3

p.G549D

c.1646G>A

2 papers

NM_000098.3

p.G549Splc

c.1645+5G>A

1 paper

NM_000098.3

p.G549Splc

c.1645+7C>T

2 papers

NM_000098.3

p.H523fs

c.1567_1568fs

4 papers

NM_000098.3

p.H523_S524delFs

c.1569_1570delCA