Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.Q250Q

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
1 paper
NM_000191.3
p.Q250Q
c.750G>A
Surrounding Variants
1 paper
NM_000191.3
p.Q250_M251Splc
c.750+1G>A
1 paper
NM_000191.3
p.Q250del1
c.748_749delCTG
1 paper
NM_000191.3
p.Q250delFs
c.750delC
1 paper
NM_000191.3
p.Q250*
c.748C>T
1 paper
NM_000191.3
p.A243_N244insFs
c.729_730insTT
1 paper
NM_000191.3
p.A241V
c.722C>T
1 paper
NM_000191.3
p.H235R
c.704A>G
2 papers
NM_000191.3
p.H235D
c.703C>G
1 paper
NM_000191.3
p.C234S
c.701G>C
1 paper
NM_000191.3
p.C234S
c.700T>A
11 papers
NM_000191.3
p.H233R
c.698A>G
1 paper
NM_000191.3
p.H233D
c.697C>G
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