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.M485K

c.1454T>A

Surrounding Variants

1 paper

NM_000859.3

p.M485T

c.1454T>C

1 paper

NM_000859.3

p.M485V

c.1453A>G

1 paper

NM_000859.3

p.M485I

c.1455G>A

1 paper

NM_000859.3

p.M485I

c.1455G>C

1 paper

NM_000859.3

p.M485I

c.1455G>T

1 paper

NM_000859.3

p.H488Y

c.1462C>T

1 paper

NM_000859.3

p.E482G

c.1445A>G

2 papers

NM_000859.3

p.R490C

c.1468C>T

1 paper

NM_000859.3

p.R490H

c.1469G>A

1 paper

NM_000859.3

p.P477L

c.1430C>T

1 paper

NM_000859.3

p.R495C

c.1483C>T

1 paper

NM_000859.3

p.R496*

c.1486C>T