Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS1
Variant:p.C232F

HMGCS1

95 papers

Pfam Domains

HMG_CoA_synt_Naa 13–186UCSCHydroxymethylglutaryl-coenzyme A synthase N terminal
HMG_CoA_synt_Caa 187–469UCSCHydroxymethylglutaryl-coenzyme A synthase C terminal

Gene Aliases

HGNC Name

3-hydroxy-3-methylglutaryl-CoA synthase 1

HGNC Previous Names

3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble); 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001098272.3
p.C232F
c.695G>T
Surrounding Variants
1 paper
NM_001098272.3
p.S227insFs
c.679_680insAG
1 paper
NM_001098272.3
p.S227R
c.681T>G
1 paper
NM_001098272.3
p.S227R
c.681T>A
1 paper
NM_001098272.3
p.S227R
c.679A>C
2 papers
NM_001098272.3
p.E247Splc
c.739+1G>A
1 paper
NM_001098272.3
p.E212K
c.634G>A
1 paper
NM_001098272.3
p.F204L
c.612T>G
1 paper
NM_001098272.3
p.F204L
c.612T>A
1 paper
NM_001098272.3
p.F204L
c.610T>C
1 paper
NM_001098272.3
p.R191Q
c.572G>A
1 paper
NM_001098272.3
p.R169K
c.506G>A
1 paper
NM_001098272.3
p.A168T
c.502G>A
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