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

1 paper

NM_000859.3

p.G542A

c.1625G>C

Surrounding Variants

1 paper

NM_000859.3

p.G542R

c.1624G>A

1 paper

NM_000859.3

p.P543L

c.1628C>T

3 papers

NM_000859.3

p.A541T

c.1621G>A

1 paper

NM_000859.3

p.G539R

c.1615G>A

1 paper

NM_000859.3

p.G539R

c.1615G>C

1 paper

NM_000859.3

p.L546S

c.1637T>C

1 paper

NM_000859.3

p.D547N

c.1639G>A

1 paper

NM_000859.3

p.P535R

c.1604C>G

1 paper

NM_000859.3

p.Q552L

c.1655A>T

1 paper

NM_000859.3

p.P554S

c.1660C>T

1 paper

NM_000859.3

p.M555V

c.1663A>G

1 paper

NM_000859.3

p.N529K

c.1587T>A