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.R41_R45del0

c.123_134del12

Surrounding Variants

1 paper

NM_001199753.2

p.R41_F46del0

c.121_138del18

1 paper

NM_001199753.2

p.W39_R41delins

c.116_122delinsC

1 paper

NM_001199753.2

p.L43_S44del1

c.129_131delCTC

1 paper

NM_001199753.2

p.S38T

c.112T>A

1 paper

NM_001199753.2

p.S38_F46del0

c.112_138del27

9 papers

NM_001199753.2

p.R37C

c.109C>T

1 paper

NM_001199753.2

p.R45H

c.134G>A

1 paper

NM_001199753.2

p.L36del1

c.106_107delCTG

1 paper

NM_001199753.2

p.G35_K40del0

c.105_119del15

1 paper

NM_001199753.2

p.G35_F46del0

c.103_138del36

1 paper

NM_001199753.2

p.Y32*

c.96C>A

1 paper

NM_001199753.2

p.Y32*

c.96C>G