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.R284_K285delFs

c.852_855del4

Surrounding Variants

1 paper

NM_001876.4

p.L286Q

c.857T>A

1 paper

NM_001876.4

p.K285N

c.855A>T

1 paper

NM_001876.4

p.K285N

c.855A>C

4 papers

NM_001876.4

p.R288Q

c.863G>A

1 paper

NM_001876.4

p.R284H

c.851G>A

1 paper

NM_001876.4

p.I279_L280insFs

c.837_838insT

23 papers

NM_001876.4

p.A275T

c.823G>A

1 paper

NM_001876.4

p.N274I

c.821A>T

2 papers

NM_001876.4

p.Q268delFs

c.804delC

2 papers

NM_001876.4

p.R295C

c.883C>T

1 paper

NM_001876.4

p.S299insFs

c.896_897ins11

2 papers

NM_001876.4

p.L303F

c.907C>T