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.A482S

c.1444G>T

Surrounding Variants

7 papers

NM_001876.4

p.L484P

c.1451T>C

78 papers

NM_001876.4

p.P479L

c.1436C>T

2 papers

NM_001876.4

p.A478V

c.1433C>T

4 papers

NM_001876.4

p.A478G

c.1433C>G

1 paper

NM_001876.4

p.A478E

c.1433C>A

1 paper

NM_001876.4

p.D477A

c.1430A>C

4 papers

NM_001876.4

p.W475*

c.1425G>A

2 papers

NM_001876.4

p.W475*

c.1424G>A

2 papers

NM_001876.4

p.H473Y

c.1417C>T

1 paper

NM_001876.4

p.G465E

c.1394G>A

5 papers

NM_001876.4

p.G465W

c.1393G>T

2 papers

NM_001876.4

p.G465R

c.1393G>C