Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.E37*

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
30 papers
NM_000191.3
p.E37*
c.109G>T
Surrounding Variants
1 paper
NM_000191.3
p.E37Q
c.109G>C
5 papers
NM_000191.3
p.E37K
c.109G>A
1 paper
NM_000191.3
p.E37V
c.110A>T
2 papers
NM_000191.3
p.E37D
c.111A>T
1 paper
NM_000191.3
p.E37D
c.111A>C
1 paper
NM_000191.3
p.V38F
c.112G>T
1 paper
NM_000191.3
p.I35delins
c.103_105delinsTAA
1 paper
NM_000191.3
p.G39delins
c.115_117delinsTAA
1 paper
NM_000191.3
p.P40S
c.118C>T
1 paper
NM_000191.3
p.G39_P40del1
c.116_118delGAC
10 papers
NM_000191.3
p.R41*
c.121C>T
38 papers
NM_000191.3
p.R41Q
c.122G>A
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."