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.Q691delFs

c.2071delG

Surrounding Variants

1 paper

NM_152246.3

p.T686A

c.2056A>G

1 paper

NM_152246.3

p.S685A

c.2053T>G

1 paper

NM_152246.3

p.D698N

c.2092G>A

2 papers

NM_152246.3

p.R683H

c.2048G>A

1 paper

NM_152246.3

p.H705Y

c.2113C>T

1 paper

NM_152246.3

p.G709R

c.2125G>C

1 paper

NM_152246.3

p.G709R

c.2125G>A

2 papers

NM_152246.3

p.G709E

c.2126G>A

1 paper

NM_152246.3

p.G710D

c.2129G>A

1 paper

NM_152246.3

p.E676_V677Splc

c.2029-90C>T

1 paper

NM_152246.3

p.E676del1

c.2026_2027delCTC

1 paper

NM_152246.3

p.C659W

c.1977C>G