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

1–12 of 143 variants

9 papers

NM_152246.3

p.E531K

c.1591G>A

7 papers

NM_152246.3

p.S427C

c.1280C>G

6 papers

NM_152246.3

p.I66V

c.196A>G

5 papers

NM_152246.3

p.G320D

c.959G>A

4 papers

NM_152246.3

p.E3A

c.8A>C

4 papers

NM_152246.3

p.G94Splc

c.282-18C>T

4 papers

NM_152246.3

p.P479L

c.1436C>T

4 papers

NM_152246.3

p.L484P

c.1451T>C

3 papers

NM_152246.3

p.D454G

c.1361A>G

3 papers

NM_152246.3

p.Y498C

c.1493A>G

3 papers

NM_152246.3

p.E729K

c.2185G>A

2 papers

NM_152246.3

p.D17E

c.51C>G