Varaico: Literature-Extracted Genetic Variants

CPT1A

365 papers

RefSeq Summary

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and car...

Pfam Domains

CPT_Naa 1–47UCSCCarnitine O-palmitoyltransferase N-terminus

Carn_acyltransfaa 174–756UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine palmitoyltransferase 1A

HGNC Previous Symbol

CPT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001876.4

p.Y32C

c.95A>G

Surrounding Variants

4 papers

NM_001876.4

p.Y32*

c.96T>G

2 papers

NM_001876.4

p.Y32*

c.96T>A

1 paper

NM_001876.4

p.S34P

c.100T>C

1 paper

NM_001876.4

p.R29R

c.87A>G

1 paper

NM_001876.4

p.L28R

c.83T>G

1 paper

NM_001876.4

p.L28_L36delFs

c.84_108del25

1 paper

NM_001876.4

p.S38A

c.112T>G

1 paper

NM_001876.4

p.S38T

c.112T>A

1 paper

NM_001876.4

p.E26A

c.77A>C

2 papers

NM_001876.4

p.E26K

c.76G>A

1 paper

NM_001876.4

p.S38fs

c.112_113fs

1 paper

NM_001876.4

p.W39*

c.116G>A