Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.V282D

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.V282D
c.845T>A
Surrounding Variants
1 paper
NM_000191.3
p.L281fs
c.841_842fs
1 paper
NM_000191.3
p.L281_Y283delFs
c.842_849del8
1 paper
NM_000191.3
p.D280A
c.839A>C
3 papers
NM_000191.3
p.L285delFs
c.853delG
1 paper
NM_000191.3
p.E279A
c.836A>C
13 papers
NM_000191.3
p.E279K
c.835G>A
1 paper
NM_000191.3
p.M284_L285delFs
c.852_855del4
1 paper
NM_000191.3
p.L276*
c.827T>A
2 papers
NM_000191.3
p.N275K
c.825C>G
1 paper
NM_000191.3
p.N275K
c.825C>A
1 paper
NM_000191.3
p.E286_G289del4
c.856_866del12
1 paper
NM_000191.3
p.G274R
c.820G>C
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