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

4 papers

NM_001876.4

p.Y498*

c.1494T>G

Surrounding Variants

2 papers

NM_001876.4

p.Y498*

c.1494T>A

1 paper

NM_001876.4

p.A499T

c.1495G>A

9 papers

NM_001876.4

p.Y498C

c.1493A>G

3 papers

NM_001876.4

p.Y498S

c.1493A>C

1 paper

NM_001876.4

p.A499V

c.1496C>T

1 paper

NM_001876.4

p.E500*

c.1498G>T

1 paper

NM_001876.4

p.A499_E500delins

c.1497_1498delinsTT

1 paper

NM_001876.4

p.Q495H

c.1485G>T

1 paper

NM_001876.4

p.Q495H

c.1485G>C

1 paper

NM_001876.4

p.H503Y

c.1507C>T

1 paper

NM_001876.4

p.I491T

c.1472T>C

1 paper

NM_001876.4

p.G502_K505del4

c.1504_1514del12