Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.V185_E187Fs

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.V185_E187Fs
c.554_559delinsTGTGFs
Surrounding Variants
1 paper
NM_000191.3
p.G178_A186delins
c.534_558delinsT
1 paper
NM_000191.3
p.E187*
c.559G>T
4 papers
NM_000191.3
p.E187_V188Splc
c.561+1G>A
1 paper
NM_000191.3
p.E187delFs
c.561delC
1 paper
NM_000191.3
p.E187del1
c.559_560delCTC
1 paper
NM_000191.3
p.I180I
c.540C>T
1 paper
NM_000191.3
p.C174S
c.521G>C
3 papers
NM_000191.3
p.C174Y
c.521G>A
1 paper
NM_000191.3
p.C174S
c.520T>A
1 paper
NM_000191.3
p.C170S
c.509G>C
1 paper
NM_000191.3
p.C170S
c.508T>A
2 papers
NM_000191.3
p.S169fs
c.505_506fs
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