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.L291del1

c.871_873delTTA

Surrounding Variants

1 paper

NM_000859.3

p.K288K

c.864G>A

1 paper

NM_000859.3

p.L293L

c.877C>T

1 paper

NM_000859.3

p.N296D

c.886A>G

1 paper

NM_000859.3

p.K299E

c.895A>G

1 paper

NM_000859.3

p.K299K

c.897G>A

1 paper

NM_000859.3

p.P279T

c.835C>A

1 paper

NM_000859.3

p.P303P

c.909A>G

1 paper

NM_000859.3

p.L307F

c.919C>T

1 paper

NM_000859.3

p.W273S

c.818G>C

1 paper

NM_000859.3

p.L307insFs

c.920_921ins4

1 paper

NM_000859.3

p.R272H

c.815G>A

1 paper

NM_000859.3

p.R272C

c.814C>T