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.C659W

c.1977C>G

Surrounding Variants

1 paper

NM_152246.3

p.G650R

c.1948G>A

1 paper

NM_152246.3

p.E676del1

c.2026_2027delCTC

1 paper

NM_152246.3

p.K638N

c.1914G>C

2 papers

NM_152246.3

p.D628A

c.1883A>C

1 paper

NM_152246.3

p.A627E

c.1880C>A

1 paper

NM_152246.3

p.T625_K626Splc

c.1876-1G>A

1 paper

NM_152246.3

p.T625_K626Splc

c.1876-14C>A

2 papers

NM_152246.3

p.C608S

c.1823G>C

1 paper

NM_152246.3

p.C608S

c.1822T>A

1 paper

NM_152246.3

p.V605L

c.1813G>T

1 paper

NM_152246.3

p.V605L

c.1813G>C

1 paper

NM_152246.3

p.E603D

c.1809G>T