Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS1
Variant:p.F258fs

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.F258fs
c.772_773fs
Surrounding Variants
1 paper
NM_001098272.3
p.F263delFs
c.788delA
1 paper
NM_001098272.3
p.D252insFs
c.754_755insCT
1 paper
NM_001098272.3
p.C268S
c.802T>A
1 paper
NM_001098272.3
p.C268S
c.803G>C
1 paper
NM_001098272.3
p.Q272*
c.814C>T
2 papers
NM_001098272.3
p.R277W
c.829C>T
1 paper
NM_001098272.3
p.S293T
c.878G>C
1 paper
NM_001098272.3
p.G297V
c.890G>T
2 papers
NM_001098272.3
p.A333P
c.997G>C
2 papers
NM_001098272.3
p.E247Splc
c.739+1G>A
1 paper
NM_001098272.3
p.M344_Y345del2
c.1030_1034del6
1 paper
NM_001098272.3
p.C232F
c.695G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."