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

4 papers

NM_152246.3

p.E3A

c.8A>C

Surrounding Variants

1 paper

NM_152246.3

p.E3Q

c.7G>C

1 paper

NM_152246.3

p.E3_A4delins

c.8_12delinsCTGCC

1 paper

NM_152246.3

p.Q6*

c.16C>T

1 paper

NM_152246.3

p.D17N

c.49G>A

2 papers

NM_152246.3

p.D17E

c.51C>G

2 papers

NM_152246.3

p.D17E

c.51C>A

1 paper

NM_152246.3

p.R22Q

c.65G>A

1 paper

NM_152246.3

p.V31I

c.91G>A

1 paper

NM_152246.3

p.Y32*

c.96C>G

1 paper

NM_152246.3

p.Y32*

c.96C>A

1 paper

NM_152246.3

p.S38fs

c.112_113fs

1 paper

NM_152246.3

p.K47_N48Splc

c.141+106T>C