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.N624D

c.1870A>G

Surrounding Variants

1 paper

NM_000098.3

p.V625I

c.1873G>A

1 paper

NM_000098.3

p.G622D

c.1865G>A

1 paper

NM_000098.3

p.W620R

c.1858T>A

1 paper

NM_000098.3

p.W620R

c.1858T>C

25 papers

NM_000098.3

p.Y628S

c.1883A>C

1 paper

NM_000098.3

p.P629L

c.1886C>T

51 papers

NM_000098.3

p.R631C

c.1891C>T

3 papers

NM_000098.3

p.R631H

c.1892G>A

1 paper

NM_000098.3

p.Y614S

c.1841A>C

1 paper

NM_000098.3

p.R634Q

c.1901G>A

6 papers

NM_000098.3

p.D608H

c.1822G>C

1 paper

NM_000098.3

p.V640V

c.1920G>T