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.H372R

c.1115A>G

Surrounding Variants

2 papers

NM_000098.3

p.S373P

c.1117T>C

1 paper

NM_000098.3

p.S373C

c.1118C>G

2 papers

NM_000098.3

p.W374*

c.1121G>A

2 papers

NM_000098.3

p.W374*

c.1122G>A

2 papers

NM_000098.3

p.H369Q

c.1107C>A

2 papers

NM_000098.3

p.H369Q

c.1107C>G

1 paper

NM_000098.3

p.H369R

c.1106A>G

1 paper

NM_000098.3

p.D376A

c.1127A>C

85 papers

NM_000098.3

p.V368I

c.1102G>A

2 papers

NM_000098.3

p.G377D

c.1130G>A

1 paper

NM_000098.3

p.R382R

c.1144A>C

5 papers

NM_000098.3

p.R382K

c.1145G>A