Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS1

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
1–12 of 81 variants
3 papers
NM_001098272.3
p.V162A
c.485T>C
3 papers
NM_001098272.3
p.V388I
c.1162G>A
2 papers
NM_001098272.3
p.E247Splc
c.739+1G>A
2 papers
NM_001098272.3
p.R277W
c.829C>T
2 papers
NM_001098272.3
p.A333P
c.997G>C
2 papers
NM_001098272.3
p.L448L
c.1344C>G
1 paper
NM_001098272.3
p.L7S
c.20T>C
1 paper
NM_001098272.3
p.A11V
c.32C>T
1 paper
NM_001098272.3
p.G18R
c.52G>C
1 paper
NM_001098272.3
p.G18R
c.52G>A
1 paper
NM_001098272.3
p.V20V
c.60T>A
1 paper
NM_001098272.3
p.A21V
c.62C>T
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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."