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

4 papers

NM_000859.3

p.S508del1

c.1522_1523delTCT

Surrounding Variants

1 paper

NM_000859.3

p.L503F

c.1507C>T

1 paper

NM_000859.3

p.L499H

c.1496T>A

1 paper

NM_000859.3

p.P513S

c.1537C>T

1 paper

NM_000859.3

p.R515T

c.1544G>C

1 paper

NM_000859.3

p.R496Q

c.1487G>A

1 paper

NM_000859.3

p.R496*

c.1486C>T

1 paper

NM_000859.3

p.R495C

c.1483C>T

1 paper

NM_000859.3

p.R490H

c.1469G>A

1 paper

NM_000859.3

p.L521F

c.1563G>C

1 paper

NM_000859.3

p.L521F

c.1563G>T

2 papers

NM_000859.3

p.R490C

c.1468C>T

1 paper

NM_000859.3

p.H488Y

c.1462C>T