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

2 papers

NM_152246.3

p.P357S

c.1069C>T

Surrounding Variants

1 paper

NM_152246.3

p.F343V

c.1027T>G

2 papers

NM_152246.3

p.A382T

c.1144G>A

1 paper

NM_152246.3

p.A383V

c.1148C>T

1 paper

NM_152246.3

p.H328R

c.983A>G

1 paper

NM_152246.3

p.R389Splc

c.1166+13A>G

1 paper

NM_152246.3

p.D324Splc

c.971-167C>A

1 paper

NM_152246.3

p.A393G

c.1178C>G

1 paper

NM_152246.3

p.L409S

c.1226T>C

1 paper

NM_152246.3

p.E413K

c.1237G>A

1 paper

NM_152246.3

p.E413delFs

c.1238_1239delCT

1 paper

NM_152246.3

p.A416T

c.1246G>A

1 paper

NM_152246.3

p.F417I

c.1249T>A