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.T499M

c.1496C>T

Surrounding Variants

1 paper

NM_152246.3

p.Y498*

c.1494C>G

1 paper

NM_152246.3

p.Y498*

c.1494C>A

3 papers

NM_152246.3

p.Y498C

c.1493A>G

1 paper

NM_152246.3

p.Y498S

c.1493A>C

1 paper

NM_152246.3

p.H503Y

c.1507C>T

2 papers

NM_152246.3

p.E486_F487Splc

c.1459-1G>C

1 paper

NM_152246.3

p.A513T

c.1537G>A

1 paper

NM_152246.3

p.Q525_C526Splc

c.1575+19G>A

1 paper

NM_152246.3

p.W485*

c.1455G>A

1 paper

NM_152246.3

p.W485*

c.1454G>A

4 papers

NM_152246.3

p.L484P

c.1451T>C

4 papers

NM_152246.3

p.P479L

c.1436C>T