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.C198_M199insFs

c.594_595insT

Surrounding Variants

3 papers

NM_000859.3

p.N204S

c.611A>G

1 paper

NM_000859.3

p.Q189H

c.567G>C

1 paper

NM_000859.3

p.Q189H

c.567G>T

1 paper

NM_000859.3

p.T210N

c.629C>A

1 paper

NM_000859.3

p.V187I

c.559G>A

1 paper

NM_000859.3

p.V187L

c.559G>C

1 paper

NM_000859.3

p.V187L

c.559G>T

1 paper

NM_000859.3

p.G186A

c.557G>C

1 paper

NM_000859.3

p.V216G

c.647T>G

1 paper

NM_000859.3

p.L218F

c.654G>C

1 paper

NM_000859.3

p.L218F

c.654G>T

1 paper

NM_000859.3

p.E221G

c.662A>G