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.L262L

c.784C>T

Surrounding Variants

3 papers

NM_000859.3

p.M260_S261Splc

c.781-1G>C

1 paper

NM_000859.3

p.M260_S261Splc

c.781-1G>T

1 paper

NM_000859.3

p.L264F

c.792G>C

1 paper

NM_000859.3

p.L264F

c.792G>T

1 paper

NM_000859.3

p.H268R

c.803A>G

1 paper

NM_000859.3

p.R272C

c.814C>T

1 paper

NM_000859.3

p.R272H

c.815G>A

1 paper

NM_000859.3

p.W273S

c.818G>C

1 paper

NM_000859.3

p.P279T

c.835C>A

1 paper

NM_000859.3

p.K288K

c.864G>A

1 paper

NM_000859.3

p.L291del1

c.871_873delTTA

1 paper

NM_000859.3

p.L293L

c.877C>T