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.M259_D260Splc

c.778-43C>T

Surrounding Variants

1 paper

NM_152246.3

p.D268N

c.802G>A

1 paper

NM_152246.3

p.Q270H

c.810G>T

1 paper

NM_152246.3

p.Q270H

c.810G>C

2 papers

NM_152246.3

p.G275R

c.823G>A

1 paper

NM_152246.3

p.R286H

c.857G>A

1 paper

NM_152246.3

p.P295A

c.883C>G

1 paper

NM_152246.3

p.P295R

c.884C>G

1 paper

NM_152246.3

p.P295_V296Splc

c.886-6C>T

1 paper

NM_152246.3

p.I318N

c.953T>A

5 papers

NM_152246.3

p.G320D

c.959G>A

1 paper

NM_152246.3

p.K321K

c.963G>A

1 paper

NM_152246.3

p.D324Splc

c.971-167C>A