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

9 papers

NM_001876.4

p.D454G

c.1361A>G

Surrounding Variants

1 paper

NM_001876.4

p.D454N

c.1360G>A

6 papers

NM_001876.4

p.K455T

c.1364A>C

2 papers

NM_001876.4

p.S456*

c.1367C>A

2 papers

NM_001876.4

p.N464D

c.1390A>G

1 paper

NM_001876.4

p.R451Splc

c.1353-24T>C

5 papers

NM_001876.4

p.G465W

c.1393G>T

2 papers

NM_001876.4

p.G465R

c.1393G>C

2 papers

NM_001876.4

p.G465R

c.1393G>A

1 paper

NM_001876.4

p.G465E

c.1394G>A

1 paper

NM_001876.4

p.R451Splc

c.1353-47G>T

2 papers

NM_001876.4

p.H473Y

c.1417C>T

2 papers

NM_001876.4

p.W475*

c.1424G>A