Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.L218L

HMGCL

184 papers

RefSeq Summary

The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. M...

Pfam Domains

HMGL-likeaa 32–306UCSCHMGL-like

Gene Aliases

HGNC Name

3-hydroxy-3-methylglutaryl-CoA lyase

HGNC Alias Symbols

HL; HMGCL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_000191.3
p.L218L
c.654A>G
Surrounding Variants
2 papers
NM_000191.3
p.M217I
c.651G>T
1 paper
NM_000191.3
p.M217I
c.651G>C
1 paper
NM_000191.3
p.M217I
c.651G>A
1 paper
NM_000191.3
p.A220fs
c.658_659fs
1 paper
NM_000191.3
p.A220delFs
c.658delC
2 papers
NM_000191.3
p.M217V
c.649A>G
1 paper
NM_000191.3
p.D216G
c.647A>G
1 paper
NM_000191.3
p.T210_G212delFs
c.629_636del8
1 paper
NM_000191.3
p.A228T
c.682G>A
1 paper
NM_000191.3
p.G209S
c.625G>A
1 paper
NM_000191.3
p.I206_G207del2
c.616_620del6
1 paper
NM_000191.3
p.G207A
c.620G>C
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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."