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.H344R

c.1031A>G

Surrounding Variants

4 papers

NM_000098.3

p.G345R

c.1033G>A

3 papers

NM_000098.3

p.G345R

c.1033G>C

1 paper

NM_000098.3

p.H344_G347del4

c.1030_1040del12

5 papers

NM_000098.3

p.M342T

c.1025T>C

1 paper

NM_000098.3

p.S339F

c.1016C>T

3 papers

NM_000098.3

p.R350C

c.1048C>T

1 paper

NM_000098.3

p.L338S

c.1013T>C

2 papers

NM_000098.3

p.W351R

c.1051T>A

2 papers

NM_000098.3

p.W351R

c.1051T>C

1 paper

NM_000098.3

p.W351*

c.1052G>A

1 paper

NM_000098.3

p.W351*

c.1053G>A

2 papers

NM_000098.3

p.F352L

c.1054T>C