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.Q289*

c.865C>T

Surrounding Variants

1 paper

NM_001199753.2

p.R288C

c.862C>T

1 paper

NM_001199753.2

p.E290*

c.868G>T

1 paper

NM_001199753.2

p.L286Q

c.857T>A

1 paper

NM_001199753.2

p.P293_T294Splc

c.879+1G>A

1 paper

NM_001199753.2

p.Y282*

c.846C>A

1 paper

NM_001199753.2

p.Y282*

c.846C>G

1 paper

NM_001199753.2

p.H277Y

c.829C>T

3 papers

NM_001199753.2

p.A275T

c.823G>A

1 paper

NM_001199753.2

p.G273_A278del0

c.819_833del15

1 paper

NM_001199753.2

p.Q268*

c.802C>T

1 paper

NM_001199753.2

p.L267L

c.799C>T

1 paper

NM_001199753.2

p.P266L

c.797C>T