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.Y167*

c.501C>G

Surrounding Variants

1 paper

NM_001199753.2

p.Y167*

c.501C>A

1 paper

NM_001199753.2

p.R169C

c.505C>T

1 paper

NM_001199753.2

p.R169H

c.506G>A

3 papers

NM_001199753.2

p.P175_V176insFs

c.524_527dup4

2 papers

NM_001199753.2

p.R160C

c.478C>T

1 paper

NM_001199753.2

p.V176insFs

c.527dupT

1 paper

NM_001199753.2

p.P177fs

c.529_530fs

2 papers

NM_001199753.2

p.S178insFs

c.533_534insT

1 paper

NM_001199753.2

p.S178F

c.533C>T

1 paper

NM_001199753.2

p.I156M

c.468C>G

1 paper

NM_001199753.2

p.Q180*

c.538C>T

1 paper

NM_001199753.2

p.V183L

c.547G>C