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

1 paper

NM_005518.4

p.Q469H

c.1407A>T

Surrounding Variants

3 papers

NM_005518.4

p.N465delFs

c.1394delT

3 papers

NM_005518.4

p.N465fs

c.1393_1394fs

1 paper

NM_005518.4

p.E462K

c.1384G>A

1 paper

NM_005518.4

p.E459E

c.1377G>A

1 paper

NM_005518.4

p.R452Q

c.1355G>A

5 papers

NM_005518.4

p.L449_S451delFs

c.1347_1351del5

5 papers

NM_005518.4

p.A450fs

c.1348_1349fs

1 paper

NM_005518.4

p.R448_L449insFs

c.1344_1345insC

1 paper

NM_001166107.1

p.P392L

c.1175C>T

1 paper

NM_001166107.1

p.D386insFs

c.1156_1157insC

4 papers

NM_005518.4

p.Q427*

c.1279C>T

13 papers

NM_005518.4

p.R424*

c.1270C>T