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

14 papers

NM_005518.4

p.Y167C

c.500A>G

Surrounding Variants

4 papers

NM_005518.4

p.G168S

c.502G>A

1 paper

NM_005518.4

p.C166S

c.497G>C

1 paper

NM_005518.4

p.C166S

c.496T>A

6 papers

NM_005518.4

p.G169D

c.506G>A

3 papers

NM_005518.4

p.A171V

c.512C>T

3 papers

NM_005518.4

p.F174V

c.520T>G

17 papers

NM_005518.4

p.F174L

c.520T>C

13 papers

NM_005518.4

p.F174L

c.522C>G

13 papers

NM_005518.4

p.F174L

c.522C>A

2 papers

NM_005518.4

p.G159V

c.476G>T

1 paper

NM_005518.4

p.A177D

c.530C>A

1 paper

NM_005518.4

p.S182insFs

c.545dupC