Varaico: Literature-Extracted Genetic Variants

CPT1A

365 papers

RefSeq Summary

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and car...

Pfam Domains

CPT_Naa 1–47UCSCCarnitine O-palmitoyltransferase N-terminus

Carn_acyltransfaa 174–756UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine palmitoyltransferase 1A

HGNC Previous Symbol

CPT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001876.4

p.T13insFs

c.38_39insG

Surrounding Variants

1 paper

NM_001876.4

p.A9G

c.26C>G

1 paper

NM_001876.4

p.D17E

c.51C>G

2 papers

NM_001876.4

p.G18A

c.53G>C

1 paper

NM_001876.4

p.D20A

c.59A>C

2 papers

NM_001876.4

p.Q6*

c.16C>T

1 paper

NM_001876.4

p.D20_R22del3

c.58_65del9

6 papers

NM_001876.4

p.E3A

c.8A>C

1 paper

NM_001876.4

p.E3Q

c.7G>C

1 paper

NM_001876.4

p.M1V

c.1A>G

2 papers

NM_001876.4

p.E26K

c.76G>A

1 paper

NM_001876.4

p.E26A

c.77A>C

1 paper

NM_001876.4

p.L28R

c.83T>G