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.S149delFs

c.445delT

Surrounding Variants

1 paper

NM_000859.3

p.N148I

c.443A>T

1 paper

NM_000859.3

p.S147P

c.439T>C

1 paper

NM_000859.3

p.S147A

c.439T>G

1 paper

NM_000859.3

p.L145F

c.433C>T

1 paper

NM_000859.3

p.A144V

c.431C>T

2 papers

NM_000859.3

p.K142R

c.425A>G

1 paper

NM_000859.3

p.D133E

c.399C>G

1 paper

NM_000859.3

p.D133N

c.397G>A

1 paper

NM_000859.3

p.F128C

c.383T>G

1 paper

NM_000859.3

p.P126S

c.376C>T

5 papers

NM_000859.3

p.A124A

c.372T>C

1 paper

NM_000859.3

p.E123G

c.368A>G