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.T72T

c.216G>C

Surrounding Variants

1 paper

NM_001876.4

p.V69M

c.205G>A

1 paper

NM_001876.4

p.K76N

c.228G>T

1 paper

NM_001876.4

p.K76N

c.228G>C

1 paper

NM_001876.4

p.D78N

c.232G>A

1 paper

NM_001876.4

p.P79R

c.236C>G

1 paper

NM_001876.4

p.G82A

c.245G>C

1 paper

NM_001876.4

p.S60A

c.178T>G

3 papers

NM_001876.4

p.P56L

c.167C>T

2 papers

NM_001876.4

p.R89W

c.265C>T

1 paper

NM_001876.4

p.T90N

c.269C>A

2 papers

NM_001876.4

p.L91P

c.272T>C

2 papers

NM_001876.4

p.V54L

c.160G>T