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

7 papers

NM_152246.3

p.S427C

c.1280C>G

Surrounding Variants

2 papers

NM_152246.3

p.Y428C

c.1283A>G

1 paper

NM_152246.3

p.F417I

c.1249T>A

1 paper

NM_152246.3

p.S437S

c.1311C>T

1 paper

NM_152246.3

p.A416T

c.1246G>A

1 paper

NM_152246.3

p.E413delFs

c.1238_1239delCT

1 paper

NM_152246.3

p.E413K

c.1237G>A

1 paper

NM_152246.3

p.L443P

c.1328T>C

1 paper

NM_152246.3

p.L409S

c.1226T>C

1 paper

NM_152246.3

p.H445L

c.1334A>T

1 paper

NM_152246.3

p.G446C

c.1336G>T

2 papers

NM_152246.3

p.C448R

c.1342T>C

1 paper

NM_152246.3

p.A393G

c.1178C>G