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.S685A

c.2053T>G

Surrounding Variants

1 paper

NM_001876.4

p.T686A

c.2056A>G

1 paper

NM_001876.4

p.R683G

c.2047A>G

1 paper

NM_001876.4

p.P703ins1

c.2107_2108insAGG

1 paper

NM_001876.4

p.S708R

c.2122A>C

1 paper

NM_001876.4

p.S708R

c.2124C>G

1 paper

NM_001876.4

p.S708R

c.2124C>A

4 papers

NM_001876.4

p.G709R

c.2125G>C

4 papers

NM_001876.4

p.G709R

c.2125G>A

5 papers

NM_001876.4

p.G709E

c.2126G>A

33 papers

NM_001876.4

p.G710E

c.2129G>A

1 paper

NM_001876.4

p.G711D

c.2132G>A

1 paper

NM_001876.4

p.F712fs

c.2134_2135fs