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.T101M

c.302C>T

Surrounding Variants

1 paper

NM_001876.4

p.K102T

c.305A>C

5 papers

NM_001876.4

p.Q100*

c.298C>T

1 paper

NM_001876.4

p.V104M

c.310G>A

1 paper

NM_001876.4

p.M97T

c.290T>C

1 paper

NM_001876.4

p.V105D

c.314T>A

1 paper

NM_001876.4

p.M97L

c.289A>T

1 paper

NM_001876.4

p.M97L

c.289A>C

1 paper

NM_001876.4

p.S106N

c.317G>A

1 paper

NM_001876.4

p.V108A

c.323T>C

1 paper

NM_001876.4

p.T112A

c.334A>G

1 paper

NM_001876.4

p.G113D

c.338G>A

1 paper

NM_001876.4

p.W115_V116delFs

c.344_347del4