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.D623G

c.1868A>G

Surrounding Variants

7 papers

NM_001199753.2

p.R631C

c.1891C>T

2 papers

NM_001199753.2

p.A639T

c.1915G>A

1 paper

NM_001199753.2

p.L641_M645delFs

c.1923_1935del13

1 paper

NM_001199753.2

p.R662*

c.1984C>T

1 paper

NM_001199753.2

p.R662Q

c.1985G>A

1 paper

NM_001199753.2

p.Q673_V674Splc

c.2019+1G>A

2 papers

NM_001199753.2

p.Q673_V674Splc

c.2020-1G>C

1 paper

NM_001199753.2

p.S676_Q689delFs

c.2028_2065del38

1 paper

NM_001199753.2

p.T622_D623Splc

c.1866+2T>G

1 paper

NM_001199753.2

p.K621*

c.1861A>T

2 papers

NM_001199753.2

p.I686_P687delFs

c.2057_2061del5

2 papers

NM_001199753.2

p.L693M

c.2077C>A