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

2 papers

NM_001876.4

p.T314S

c.941C>G

Surrounding Variants

1 paper

NM_001876.4

p.T314I

c.941C>T

2 papers

NM_001876.4

p.T314S

c.940A>T

1 paper

NM_001876.4

p.T314A

c.940A>G

1 paper

NM_001876.4

p.R316W

c.946C>T

4 papers

NM_001876.4

p.R316G

c.946C>G

3 papers

NM_001876.4

p.R316Q

c.947G>A

2 papers

NM_001876.4

p.R316delFs

c.948delC

2 papers

NM_001876.4

p.R310Q

c.929G>A

1 paper

NM_001876.4

p.G319insFs

c.955_956insC

2 papers

NM_001876.4

p.G319V

c.956G>T

1 paper

NM_001876.4

p.E321G

c.962A>G

2 papers

NM_001876.4

p.E321E

c.963G>A