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.A57T

c.169G>A

Surrounding Variants

4 papers

NM_001199753.2

p.G53D

c.158G>A

1 paper

NM_001199753.2

p.S61_A68delFs

c.182_203del22

1 paper

NM_001199753.2

p.L71F

c.211C>T

7 papers

NM_001199753.2

p.Q76*

c.226C>T

1 paper

NM_001199753.2

p.L81insFs

c.243dupA

1 paper

NM_001199753.2

p.L91delFs

c.273delG

1 paper

NM_001199753.2

p.W94R

c.280T>A

1 paper

NM_001199753.2

p.W94R

c.280T>C

1 paper

NM_001199753.2

p.Q97H

c.291A>C

1 paper

NM_001199753.2

p.Q97H

c.291A>T

1 paper

NM_001199753.2

p.H99Y

c.295C>T

1 paper

NM_001199753.2

p.G100delFs

c.298delG