Varaico: Literature-Extracted Genetic Variants

CPT1B

109 papers

RefSeq Summary

The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria....

Pfam Domains

CPT_Naa 1–47UCSCCarnitine O-palmitoyltransferase N-terminus

Carn_acyltransfaa 176–756UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine palmitoyltransferase 1B

HGNC Alias Symbols

M-CPT1; CPT1-M

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152246.3

p.N464D

c.1390A>G

Surrounding Variants

1 paper

NM_152246.3

p.G465C

c.1393G>T

1 paper

NM_152246.3

p.K455T

c.1364A>C

1 paper

NM_152246.3

p.H473Y

c.1417C>T

3 papers

NM_152246.3

p.D454G

c.1361A>G

1 paper

NM_152246.3

p.W475*

c.1424G>A

1 paper

NM_152246.3

p.W475*

c.1425G>A

1 paper

NM_152246.3

p.A476T

c.1426G>A

1 paper

NM_152246.3

p.D477A

c.1430A>C

1 paper

NM_152246.3

p.A478V

c.1433C>T

2 papers

NM_152246.3

p.A478G

c.1433C>G

1 paper

NM_152246.3

p.A478D

c.1433C>A

4 papers

NM_152246.3

p.P479L

c.1436C>T