Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.Y167*

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
2 papers
NM_000191.3
p.Y167*
c.501C>G
Surrounding Variants
1 paper
NM_000191.3
p.Y167insFs
c.500dupA
1 paper
NM_000191.3
p.Y167*
c.501C>A
2 papers
NM_000191.3
p.Y167N
c.499T>A
2 papers
NM_000191.3
p.V168fs
c.502_503fs
1 paper
NM_000191.3
p.S169fs
c.505_506fs
2 papers
NM_000191.3
p.S169fs
c.505_506fs
9 papers
NM_000191.3
p.S169delFs
c.505_506delGA
1 paper
NM_000191.3
p.C170S
c.508T>A
1 paper
NM_000191.3
p.C170S
c.509G>C
1 paper
NM_000191.3
p.C174S
c.520T>A
1 paper
NM_000191.3
p.C174S
c.521G>C
3 papers
NM_000191.3
p.C174Y
c.521G>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."