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.R243H

c.728G>A

Surrounding Variants

1 paper

NM_001199753.2

p.R243_S244insFs

c.729_730insTT

1 paper

NM_001199753.2

p.R245delFs

c.733delC

1 paper

NM_001199753.2

p.R245*

c.733C>T

1 paper

NM_001199753.2

p.P247P

c.741G>T

1 paper

NM_001199753.2

p.W236*

c.708G>A

1 paper

NM_001199753.2

p.W236*

c.707G>A

1 paper

NM_001199753.2

p.V232I

c.694G>A

1 paper

NM_001199753.2

p.F259delFs

c.777delC

1 paper

NM_001199753.2

p.T265K

c.794C>A

1 paper

NM_001199753.2

p.T265M

c.794C>T

1 paper

NM_001199753.2

p.P266L

c.797C>T

1 paper

NM_001199753.2

p.L267L

c.799C>T