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.D578N

c.1732G>A

Surrounding Variants

1 paper

NM_001199753.2

p.R577_D578Splc

c.1732-2A>G

1 paper

NM_001199753.2

p.R579delFs

c.1735_1736delAG

1 paper

NM_001199753.2

p.L593*

c.1778T>A

1 paper

NM_001199753.2

p.L593*

c.1778T>G

1 paper

NM_001199753.2

p.G597S

c.1789G>A

2 papers

NM_001199753.2

p.T601M

c.1802C>T

1 paper

NM_001199753.2

p.E608delFs

c.1822delG

1 paper

NM_001199753.2

p.K621*

c.1861A>T

1 paper

NM_001199753.2

p.T622_D623Splc

c.1866+2T>G

1 paper

NM_001199753.2

p.R577_D578Splc

c.1731+2T>C

1 paper

NM_001199753.2

p.R577W

c.1729C>T

1 paper

NM_001199753.2

p.R577delFs

c.1729delC