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

1–12 of 333 variants

78 papers

NM_001876.4

p.P479L

c.1436C>T

33 papers

NM_001876.4

p.G710E

c.2129G>A

23 papers

NM_001876.4

p.A275T

c.823G>A

18 papers

NM_001876.4

p.E92V

c.275A>T

9 papers

NM_001876.4

p.R160*

c.478C>T

9 papers

NM_001876.4

p.D454G

c.1361A>G

9 papers

NM_001876.4

p.Y498C

c.1493A>G

7 papers

NM_001876.4

p.C304W

c.912C>G

7 papers

NM_001876.4

p.A414V

c.1241C>T

7 papers

NM_001876.4

p.L484P

c.1451T>C

7 papers

NM_001876.4

p.F734S

c.2201T>C

6 papers

NM_001876.4

p.E3A

c.8A>C