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

6 papers

NM_152246.3

p.I66V

c.196A>G

Surrounding Variants

1 paper

NM_152246.3

p.T60P

c.178A>C

1 paper

NM_152246.3

p.P59L

c.176C>T

1 paper

NM_152246.3

p.P56L

c.167C>T

1 paper

NM_152246.3

p.G53V

c.158G>T

1 paper

NM_152246.3

p.S80F

c.239C>T

1 paper

NM_152246.3

p.Q93*

c.277C>T

1 paper

NM_152246.3

p.G94Splc

c.281+5G>A

1 paper

NM_152246.3

p.G94Splc

c.281+79G>A

1 paper

NM_152246.3

p.G94Splc

c.281+113G>A

1 paper

NM_152246.3

p.K47_N48Splc

c.141+106T>C

1 paper

NM_152246.3

p.G94Splc

c.282-71C>T

4 papers

NM_152246.3

p.G94Splc

c.282-18C>T