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.L747L

c.2241G>A

Surrounding Variants

1 paper

NM_001199753.2

p.V758V

c.2274G>A

1 paper

NM_001199753.2

p.A759G

c.2276C>G

1 paper

NM_001199753.2

p.A759V

c.2276C>T

1 paper

NM_001199753.2

p.S775delFs

c.2323delT

1 paper

NM_001199753.2

p.R781S

c.2343G>C

1 paper

NM_001199753.2

p.R781S

c.2343G>T

1 paper

NM_001199753.2

p.F786L

c.2356T>C

1 paper

NM_001199753.2

p.F786L

c.2358T>A

1 paper

NM_001199753.2

p.F786L

c.2358T>G

1 paper

NM_001199753.2

p.Q790*

c.2368C>T

1 paper

NM_001199753.2

p.T799I

c.2396C>T

1 paper

NM_001199753.2

p.K737*

c.2209A>T