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.K180E

c.538A>G

Surrounding Variants

1 paper

NM_001876.4

p.A178insFs

c.533_534insT

1 paper

NM_001876.4

p.P177L

c.530C>T

1 paper

NM_001876.4

p.R173H

c.518G>A

9 papers

NM_001876.4

p.R160*

c.478C>T

1 paper

NM_001876.4

p.G159delFs

c.475delC

1 paper

NM_001876.4

p.G159C

c.475G>T

1 paper

NM_001876.4

p.M153T

c.458T>C

1 paper

NM_001876.4

p.M153V

c.457A>G

1 paper

NM_001876.4

p.G152R

c.454G>C

1 paper

NM_001876.4

p.M151_G152Splc

c.454-41T>C

1 paper

NM_001876.4

p.W150_M151delFs

c.449_452del4

1 paper

NM_001876.4

p.R145H

c.434G>A