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.I179T

c.536T>C

Surrounding Variants

1 paper

NM_000859.3

p.G180G

c.540A>T

2 papers

NM_000859.3

p.L177V

c.529C>G

15 papers

NM_000859.3

p.V174A

c.521T>C

1 paper

NM_000859.3

p.M184T

c.551T>C

1 paper

NM_000859.3

p.S185A

c.553T>G

1 paper

NM_000859.3

p.S185*

c.554C>A

1 paper

NM_000859.3

p.S185*

c.554C>G

1 paper

NM_000859.3

p.G186R

c.556G>A

1 paper

NM_000859.3

p.G186R

c.556G>C

1 paper

NM_000859.3

p.A172V

c.515C>T

1 paper

NM_000859.3

p.G186A

c.557G>C

1 paper

NM_000859.3

p.T167M

c.500C>T