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

1–12 of 205 variants

9 papers

NM_001199753.2

p.R37C

c.109C>T

7 papers

NM_001199753.2

p.Q76*

c.226C>T

7 papers

NM_001199753.2

p.R631C

c.1891C>T

7 papers

NM_001199753.2

p.G710E

c.2129G>A

5 papers

NM_001199753.2

p.D17E

c.51C>G

4 papers

NM_001199753.2

p.G53D

c.158G>A

3 papers

NM_001199753.2

p.E3A

c.8A>C

3 papers

NM_001199753.2

p.P175_V176insFs

c.524_527dup4

3 papers

NM_001199753.2

p.R243H

c.728G>A

3 papers

NM_001199753.2

p.A275T

c.823G>A

2 papers

NM_001199753.2

p.V104delFs

c.310delG

2 papers

NM_001199753.2

p.A108T

c.322G>A