Varaico: Literature-Extracted Genetic Variants

HMGCR

454 papers

RefSeq Summary

HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the p...

Pfam Domains

Sterol-sensingaa 85–235UCSCSterol-sensing domain of SREBP cleavage-activation

HMG-CoA_redaa 491–871UCSCHydroxymethylglutaryl-coenzyme A reductase

Gene Aliases

HGNC Name

3-hydroxy-3-methylglutaryl-CoA reductase

HGNC Previous Name

3-hydroxy-3-methylglutaryl-Coenzyme A reductase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000859.3

p.R641C

c.1921C>T

Surrounding Variants

1 paper

NM_000859.3

p.G640R

c.1918G>A

1 paper

NM_000859.3

p.G640R

c.1918G>C

1 paper

NM_000859.3

p.A639V

c.1916C>T

1 paper

NM_000859.3

p.L643F

c.1927C>T

12 papers

NM_000859.3

p.I638V

c.1912A>G

1 paper

NM_000859.3

p.R646H

c.1937G>A

1 paper

NM_000859.3

p.Q648*

c.1942C>T

1 paper

NM_000859.3

p.Q648Q

c.1944G>A

1 paper

NM_000859.3

p.D653fs

c.1957_1958fs

1 paper

NM_000859.3

p.S626I

c.1877G>T

2 papers

NM_000859.3

p.D623N

c.1867G>A

1 paper

NM_000859.3

p.F622F

c.1866T>C