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

5 papers

NM_005518.4

p.K137*

c.409A>T

Surrounding Variants

1 paper

NM_005518.4

p.D136V

c.407A>T

3 papers

NM_005518.4

p.D136G

c.407A>G

1 paper

NM_005518.4

p.A140_V141ins4

c.418_422ins12

3 papers

NM_005518.4

p.V141D

c.422T>A

5 papers

NM_005518.4

p.V144L

c.430G>T

3 papers

NM_005518.4

p.G130_T131insC

c.388_392ins3

5 papers

NM_005518.4

p.V144L

c.430G>C

1 paper

NM_005518.4

p.V144fs

c.430_431fs

2 papers

NM_005518.4

p.V144fs

c.430_431fs

2 papers

NM_005518.4

p.V144delFs

c.431_432delCA

2 papers

NM_005518.4

p.M146R

c.437T>G

1 paper

NM_005518.4

p.M146T

c.437T>C