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

6 papers

NM_000859.3

p.K89R

c.266A>G

Surrounding Variants

1 paper

NM_000859.3

p.K89N

c.267A>T

1 paper

NM_000859.3

p.S88S

c.264A>G

1 paper

NM_000859.3

p.S88P

c.262T>C

1 paper

NM_000859.3

p.G87R

c.259G>A

1 paper

NM_000859.3

p.G87R

c.259G>C

1 paper

NM_000859.3

p.L92*

c.275T>A

1 paper

NM_000859.3

p.G93S

c.277G>A

2 papers

NM_000859.3

p.Q85R

c.254A>G

1 paper

NM_000859.3

p.G93A

c.278G>C

1 paper

NM_000859.3

p.G93Splc

c.277+1G>T

2 papers

NM_000859.3

p.R84C

c.250C>T

1 paper

NM_000859.3

p.N82I

c.245A>T