Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.T205S

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.T205S
c.614C>G
Surrounding Variants
2 papers
NM_000191.3
p.T205S
c.613A>T
1 paper
NM_000191.3
p.D204G
c.611A>G
2 papers
NM_000191.3
p.D204A
c.611A>C
7 papers
NM_000191.3
p.D204N
c.610G>A
1 paper
NM_000191.3
p.G207R
c.619G>C
1 paper
NM_000191.3
p.G203G
c.609G>A
1 paper
NM_000191.3
p.G207A
c.620G>C
6 papers
NM_000191.3
p.G203E
c.608G>A
1 paper
NM_000191.3
p.I206_G207del2
c.616_620del6
1 paper
NM_000191.3
p.G209S
c.625G>A
8 papers
NM_000191.3
p.S201Y
c.602C>A
1 paper
NM_000191.3
p.I200N
c.599T>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."