Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS1
Variant:p.E144delFs

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.E144delFs
c.431_432delCT
Surrounding Variants
1 paper
NM_001098272.3
p.V140_N141ins4
c.418_422ins12
1 paper
NM_001098272.3
p.A139P
c.415G>C
1 paper
NM_001098272.3
p.C129S
c.386G>C
1 paper
NM_001098272.3
p.C129S
c.385T>A
1 paper
NM_001098272.3
p.E121G
c.362A>G
1 paper
NM_001098272.3
p.I120I
c.360A>T
1 paper
NM_001098272.3
p.S115delFs
c.344_345delAG
1 paper
NM_001098272.3
p.S115fs
c.343_344fs
1 paper
NM_001098272.3
p.T106S
c.317C>G
1 paper
NM_001098272.3
p.T106S
c.316A>T
1 paper
NM_001098272.3
p.E91D
c.273A>T
1 paper
NM_001098272.3
p.E91D
c.273A>C
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