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.A162E

c.485C>A

Surrounding Variants

1 paper

NM_000859.3

p.G160*

c.478G>T

1 paper

NM_000859.3

p.G165C

c.493G>T

1 paper

NM_000859.3

p.R159H

c.476G>A

3 papers

NM_000859.3

p.R159C

c.475C>T

1 paper

NM_000859.3

p.T167S

c.499A>T

1 paper

NM_000859.3

p.T167M

c.500C>T

1 paper

NM_000859.3

p.N156K

c.468T>A

2 papers

NM_000859.3

p.N156S

c.467A>G

1 paper

NM_000859.3

p.R154K

c.461G>A

1 paper

NM_000859.3

p.R154T

c.461G>C

1 paper

NM_000859.3

p.A172V

c.515C>T

1 paper

NM_000859.3

p.D151G

c.452A>G