Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS1
Variant:p.L448L

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
2 papers
NM_001098272.3
p.L448L
c.1344C>G
Surrounding Variants
1 paper
NM_001098272.3
p.S447P
c.1339T>C
1 paper
NM_001098272.3
p.Q442H
c.1326G>T
1 paper
NM_001098272.3
p.Q442H
c.1326G>C
1 paper
NM_001098272.3
p.E460D
c.1380A>C
1 paper
NM_001098272.3
p.A489delFs
c.1465delC
1 paper
NM_001098272.3
p.E431_D432del2
c.1291_1295del6
1 paper
NM_001098272.3
p.R430K
c.1289G>A
1 paper
NM_001098272.3
p.R502S
c.1506A>T
1 paper
NM_001098272.3
p.R502S
c.1506A>C
1 paper
NM_001098272.3
p.L503P
c.1508T>C
1 paper
NM_001098272.3
p.A392G
c.1175C>G
3 papers
NM_001098272.3
p.V388I
c.1162G>A
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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."