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

2 papers

NM_000098.3

p.R124P

c.371G>C

Surrounding Variants

8 papers

NM_000098.3

p.R124Q

c.371G>A

18 papers

NM_000098.3

p.R124*

c.370C>T

1 paper

NM_000098.3

p.D125A

c.374A>C

4 papers

NM_000098.3

p.S122F

c.365C>T

3 papers

NM_000098.3

p.L121Q

c.362T>A

15 papers

NM_000098.3

p.Y120C

c.359A>G

1 paper

NM_000098.3

p.L129_N130insFs

c.387_388insA

1 paper

NM_000098.3

p.N130D

c.388A>G

3 papers

NM_000098.3

p.D118G

c.353A>G

1 paper

NM_000098.3

p.W116_D125delFs

c.348_373del26

1 paper

NM_000098.3

p.P133S

c.397C>T

1 paper

NM_000098.3

p.P115_W116delFs

c.344_347del4