Varaico: Literature-Extracted Genetic Variants

CPT1C

162 papers

RefSeq Summary

This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a...

Pfam Domains

CPT_Naa 1–47UCSCCarnitine O-palmitoyltransferase N-terminus

Carn_acyltransfaa 174–753UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine palmitoyltransferase 1C

HGNC Alias Symbols

FLJ23809; CPTIC; CPT1P; CATL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001199753.2

p.E3A

c.8A>C

Surrounding Variants

1 paper

NM_001199753.2

p.E3Q

c.7G>C

1 paper

NM_001199753.2

p.A2V

c.5C>T

1 paper

NM_001199753.2

p.M1R

c.2T>G

1 paper

NM_001199753.2

p.M1V

c.1A>G

1 paper

NM_001199753.2

p.G9insFs

c.26dupG

1 paper

NM_001199753.2

p.S13insFs

c.38_39insGC

1 paper

NM_001199753.2

p.D17E

c.51C>A

5 papers

NM_001199753.2

p.D17E

c.51C>G

1 paper

NM_001199753.2

p.V21insFs

c.63dupG

1 paper

NM_001199753.2

p.A25A

c.75C>A

1 paper

NM_001199753.2

p.Y32*

c.96C>A

1 paper

NM_001199753.2

p.Y32*

c.96C>G