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

1 paper

NM_001199753.2

p.V124M

c.370G>A

Surrounding Variants

1 paper

NM_001199753.2

p.H123Y

c.367C>T

1 paper

NM_001199753.2

p.L128L

c.384G>A

1 paper

NM_001199753.2

p.W115*

c.345G>A

1 paper

NM_001199753.2

p.W115*

c.344G>A

1 paper

NM_001199753.2

p.G134A

c.401G>C

1 paper

NM_001199753.2

p.C113Y

c.338G>A

1 paper

NM_001199753.2

p.W135*

c.404G>A

1 paper

NM_001199753.2

p.W135*

c.405G>A

1 paper

NM_001199753.2

p.H140_K148delFs

c.420_442del23

1 paper

NM_001199753.2

p.A108V

c.323C>T

2 papers

NM_001199753.2

p.A108T

c.322G>A

1 paper

NM_001199753.2

p.A142S

c.424G>T