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

4 papers

NM_005518.4

p.L386insFs

c.1156_1157insC

Surrounding Variants

2 papers

NM_005518.4

p.L386fs

c.1156_1157fs

1 paper

NM_005518.4

p.S385T

c.1153T>A

7 papers

NM_005518.4

p.G388R

c.1162G>C

11 papers

NM_005518.4

p.G388R

c.1162G>A

5 papers

NM_005518.4

p.M381V

c.1141A>G

5 papers

NM_005518.4

p.S392L

c.1175C>T

1 paper

NM_005518.4

p.L393V

c.1177C>G

6 papers

NM_005518.4

p.H396Splc

c.1187+1G>C

1 paper

NM_001166107.1

p.H354Splc

c.1061+1G>A

2 papers

NM_005518.4

p.Y373F

c.1118A>T

1 paper

NM_005518.4

p.F364L

c.1092C>G

1 paper

NM_005518.4

p.F364L

c.1092C>A