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.S226C

c.676A>T

Surrounding Variants

1 paper

NM_000859.3

p.R227C

c.679C>T

1 paper

NM_000859.3

p.R227H

c.680G>A

1 paper

NM_000859.3

p.R227_E228del1

c.681_683delCGA

1 paper

NM_000859.3

p.R224W

c.670C>T

3 papers

NM_000859.3

p.E228K

c.682G>A

2 papers

NM_000859.3

p.R230C

c.688C>T

1 paper

NM_000859.3

p.I232T

c.695T>C

4 papers

NM_000859.3

p.W233*

c.699G>A

1 paper

NM_000859.3

p.R240*

c.718C>T

1 paper

NM_000859.3

p.V241V

c.723T>A

6 papers

NM_000859.3

p.K248R

c.743A>G

1 paper

NM_000859.3

p.P249Q

c.746C>A