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.Y449D

c.1345T>G

Surrounding Variants

2 papers

NM_001876.4

p.C448R

c.1342T>C

3 papers

NM_001876.4

p.R447*

c.1339C>T

3 papers

NM_001876.4

p.G446C

c.1336G>T

3 papers

NM_001876.4

p.G446S

c.1336G>A

1 paper

NM_001876.4

p.L443P

c.1328T>C

3 papers

NM_001876.4

p.A440T

c.1318G>A

1 paper

NM_001876.4

p.D437D

c.1311C>T

1 paper

NM_001876.4

p.T434S

c.1300A>T

2 papers

NM_001876.4

p.P432L

c.1295C>T

1 paper

NM_001876.4

p.E430*

c.1288G>T

1 paper

NM_001876.4

p.D421N

c.1261G>A

1 paper

NM_001876.4

p.V418L

c.1252G>T