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

1–12 of 204 variants

18 papers

NM_005518.4

p.G212R

c.634G>A

17 papers

NM_005518.4

p.F174L

c.520T>C

16 papers

NM_005518.4

p.G212R

c.634G>C

14 papers

NM_005518.4

p.V54M

c.160G>A

14 papers

NM_005518.4

p.Y167C

c.500A>G

13 papers

NM_005518.4

p.F174L

c.522C>G

13 papers

NM_005518.4

p.F174L

c.522C>A

13 papers

NM_005518.4

p.R424*

c.1270C>T

13 papers

NM_005518.4

p.R500H

c.1499G>A

11 papers

NM_005518.4

p.G388R

c.1162G>A

10 papers

NM_005518.4

p.G339Splc

c.1016+1G>A

10 papers

NM_005518.4

p.R505Q

c.1514G>A