Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.S201Y

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
8 papers
NM_000191.3
p.S201Y
c.602C>A
Surrounding Variants
1 paper
NM_000191.3
p.I200N
c.599T>A
2 papers
NM_000191.3
p.I200F
c.598A>T
6 papers
NM_000191.3
p.G203E
c.608G>A
1 paper
NM_000191.3
p.E199V
c.596A>T
1 paper
NM_000191.3
p.G203G
c.609G>A
7 papers
NM_000191.3
p.D204N
c.610G>A
1 paper
NM_000191.3
p.D204G
c.611A>G
2 papers
NM_000191.3
p.D204A
c.611A>C
1 paper
NM_000191.3
p.Y198H
c.592T>C
2 papers
NM_000191.3
p.T205S
c.613A>T
1 paper
NM_000191.3
p.C197S
c.590G>C
2 papers
NM_000191.3
p.T205S
c.614C>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."