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.R595H

c.1784G>A

Surrounding Variants

1 paper

NM_000859.3

p.R595P

c.1784G>C

2 papers

NM_000859.3

p.R595C

c.1783C>T

1 paper

NM_000859.3

p.L596P

c.1787T>C

1 paper

NM_000859.3

p.P597S

c.1789C>T

2 papers

NM_000859.3

p.R590H

c.1769G>A

1 paper

NM_000859.3

p.R590C

c.1768C>T

1 paper

NM_000859.3

p.A585V

c.1754C>T

1 paper

NM_000859.3

p.R582*

c.1744C>T

1 paper

NM_000859.3

p.A579_L584delFs

c.1737_1752del16

1 paper

NM_000859.3

p.L575F

c.1723C>T

1 paper

NM_000859.3

p.A616T

c.1846G>A

1 paper

NM_000859.3

p.F622F

c.1866T>C