Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.L263P

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.L263P
c.788T>C
Surrounding Variants
2 papers
NM_000191.3
p.G264E
c.791G>A
1 paper
NM_000191.3
p.G262E
c.785G>A
4 papers
NM_000191.3
p.C266R
c.796T>C
4 papers
NM_000191.3
p.C266S
c.796T>A
4 papers
NM_000191.3
p.C266S
c.797G>C
1 paper
NM_000191.3
p.V260M
c.778G>A
1 paper
NM_000191.3
p.P267S
c.799C>T
1 paper
NM_000191.3
p.S259F
c.776C>T
1 paper
NM_000191.3
p.S258F
c.773C>T
1 paper
NM_000191.3
p.D257G
c.770A>G
1 paper
NM_000191.3
p.Q270R
c.809A>G
2 papers
NM_000191.3
p.S254G
c.760A>G
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."