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.T38K

c.113C>A

Surrounding Variants

1 paper

NM_005518.4

p.A39A

c.117C>A

1 paper

NM_005518.4

p.R35M

c.104G>T

1 paper

NM_005518.4

p.R35Splc

c.105-1G>A

2 papers

NM_005518.4

p.L44fs

c.130_131fs

3 papers

NM_005518.4

p.L44insFs

c.130_131insC

1 paper

NM_005518.4

p.L44delFs

c.130delG

1 paper

NM_005518.4

p.L44fs

c.130_131fs

1 paper

NM_005518.4

p.T47insFs

c.140_141ins4

1 paper

NM_005518.4

p.W50*

c.149G>A

14 papers

NM_005518.4

p.V54M

c.160G>A

5 papers

NM_005518.4

p.I56N

c.167T>A

3 papers

NM_005518.4

p.L59M

c.175C>A