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

7 papers

NM_005518.4

p.R112W

c.334C>T

Surrounding Variants

1 paper

NM_005518.4

p.R116C

c.346C>T

2 papers

NM_005518.4

p.R116H

c.347G>A

1 paper

NM_005518.4

p.R116delFs

c.346delG

1 paper

NM_005518.4

p.P120L

c.359C>T

1 paper

NM_005518.4

p.I102M

c.306C>G

1 paper

NM_005518.4

p.I102V

c.304A>G

1 paper

NM_005518.4

p.E100D

c.300G>T

1 paper

NM_005518.4

p.E100D

c.300G>C

1 paper

NM_005518.4

p.E100K

c.298G>A

1 paper

NM_005518.4

p.V98A

c.293T>C

1 paper

NM_005518.4

p.G94D

c.281G>A

3 papers

NM_005518.4

p.G130_T131insC

c.388_392ins3