Varaico: Literature-Extracted Genetic Variants

HMGCS2

160 papers

RefSeq Summary

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived ...

Pfam Domains

HMG_CoA_synt_Naa 50–223UCSCHydroxymethylglutaryl-coenzyme A synthase N terminal

HMG_CoA_synt_Caa 224–506UCSCHydroxymethylglutaryl-coenzyme A synthase C terminal

Gene Aliases

HGNC Name

3-hydroxy-3-methylglutaryl-CoA synthase 2

HGNC Previous Names

3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial); 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005518.4

p.F317F

c.951C>T

Surrounding Variants

1 paper

NM_005518.4

p.F320I

c.958T>A

1 paper

NM_005518.4

p.S322P

c.964T>C

4 papers

NM_005518.4

p.S322*

c.965C>G

2 papers

NM_005518.4

p.S322*

c.965C>A

3 papers

NM_005518.4

p.K310R

c.929A>G

1 paper

NM_005518.4

p.K310E

c.928A>G

1 paper

NM_005518.4

p.Q309*

c.925C>T

7 papers

NM_005518.4

p.M307T

c.920T>C

1 paper

NM_005518.4

p.C305S

c.914G>C

1 paper

NM_005518.4

p.C305S

c.913T>A

3 papers

NM_005518.4

p.T302I

c.905C>T

1 paper

NM_005518.4

p.G334R

c.1000G>A