Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.F192S

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
3 papers
NM_000191.3
p.F192S
c.575T>C
Surrounding Variants
1 paper
NM_000191.3
p.M195V
c.583A>G
1 paper
NM_000191.3
p.C197S
c.589T>A
1 paper
NM_000191.3
p.E187_V188Splc
c.562-1G>A
1 paper
NM_000191.3
p.C197S
c.590G>C
1 paper
NM_000191.3
p.Y198H
c.592T>C
1 paper
NM_000191.3
p.E199V
c.596A>T
2 papers
NM_000191.3
p.I200F
c.598A>T
1 paper
NM_000191.3
p.I200N
c.599T>A
8 papers
NM_000191.3
p.S201Y
c.602C>A
6 papers
NM_000191.3
p.G203E
c.608G>A
1 paper
NM_000191.3
p.G203G
c.609G>A
7 papers
NM_000191.3
p.D204N
c.610G>A
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