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.S533_Y534insT

c.1597_1601ins3

Surrounding Variants

9 papers

NM_152246.3

p.E531K

c.1591G>A

1 paper

NM_152246.3

p.D543N

c.1627G>A

1 paper

NM_152246.3

p.Q550R

c.1649A>G

1 paper

NM_152246.3

p.K560E

c.1678A>G

1 paper

NM_152246.3

p.D567A

c.1700A>C

1 paper

NM_152246.3

p.R580_D581Splc

c.1741-28G>A

1 paper

NM_152246.3

p.E590Q

c.1768G>C

2 papers

NM_152246.3

p.E590D

c.1770G>T

2 papers

NM_152246.3

p.E590D

c.1770G>C

1 paper

NM_152246.3

p.T594A

c.1780A>G

1 paper

NM_152246.3

p.G600R

c.1798G>C

1 paper

NM_152246.3

p.G600R

c.1798G>A