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.V411M

c.1231G>A

Surrounding Variants

2 papers

NM_001876.4

p.D409V

c.1226A>T

1 paper

NM_001876.4

p.D409H

c.1225G>C

1 paper

NM_001876.4

p.L408F

c.1222C>T

7 papers

NM_001876.4

p.A414V

c.1241C>T

1 paper

NM_001876.4

p.F417I

c.1249T>A

1 paper

NM_001876.4

p.F417F

c.1251T>C

1 paper

NM_001876.4

p.V418L

c.1252G>T

1 paper

NM_001876.4

p.V418L

c.1252G>C

1 paper

NM_001876.4

p.D421N

c.1261G>A

1 paper

NM_001876.4

p.E430*

c.1288G>T

2 papers

NM_001876.4

p.P432L

c.1295C>T

1 paper

NM_001876.4

p.T434S

c.1300A>T