Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS1
Variant:p.L90M

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.L90M
c.268C>A
Surrounding Variants
1 paper
NM_001098272.3
p.E91D
c.273A>T
1 paper
NM_001098272.3
p.E91D
c.273A>C
1 paper
NM_001098272.3
p.N81S
c.242A>G
1 paper
NM_001098272.3
p.N80H
c.238A>C
1 paper
NM_001098272.3
p.N75K
c.225T>G
1 paper
NM_001098272.3
p.N75K
c.225T>A
1 paper
NM_001098272.3
p.T106S
c.316A>T
1 paper
NM_001098272.3
p.T106S
c.317C>G
1 paper
NM_001098272.3
p.M70T
c.209T>C
1 paper
NM_001098272.3
p.M70L
c.208A>T
1 paper
NM_001098272.3
p.M70L
c.208A>C
1 paper
NM_001098272.3
p.S115fs
c.343_344fs
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