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

7 papers

NM_001199753.2

p.G710E

c.2129G>A

Surrounding Variants

1 paper

NM_001199753.2

p.P711delFs

c.2132delC

2 papers

NM_001199753.2

p.P711_A712Splc

c.2133+1G>A

1 paper

NM_001199753.2

p.G708E

c.2123G>A

1 paper

NM_001199753.2

p.Y702delFs

c.2105_2106delAT

2 papers

NM_001199753.2

p.L693M

c.2077C>A

2 papers

NM_001199753.2

p.I686_P687delFs

c.2057_2061del5

1 paper

NM_001199753.2

p.S676_Q689delFs

c.2028_2065del38

2 papers

NM_001199753.2

p.Q673_V674Splc

c.2020-1G>C

1 paper

NM_001199753.2

p.I729_T730insTT

c.2185_2189ins6

1 paper

NM_001199753.2

p.K737insFs

c.2211dupA

1 paper

NM_001199753.2

p.K737*

c.2209A>T

1 paper

NM_001199753.2

p.L747L

c.2241G>A