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.A72S

c.214G>T

Surrounding Variants

1 paper

NM_000859.3

p.I71T

c.212T>C

1 paper

NM_000859.3

p.R69Q

c.206G>A

1 paper

NM_000859.3

p.R69*

c.205C>T

1 paper

NM_000859.3

p.T68T

c.204A>C

2 papers

NM_000859.3

p.Y75C

c.224A>G

1 paper

NM_000859.3

p.F78L

c.232T>C

1 paper

NM_000859.3

p.F78L

c.234C>A

1 paper

NM_000859.3

p.F78L

c.234C>G

1 paper

NM_000859.3

p.Q79R

c.236A>G

1 paper

NM_000859.3

p.N82I

c.245A>T

1 paper

NM_000859.3

p.D61A

c.182A>C

1 paper

NM_000859.3

p.D61H

c.181G>C