Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.N46K

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.N46K
c.138T>A
Surrounding Variants
2 papers
NM_000191.3
p.N46fs
c.136_137fs
2 papers
NM_000191.3
p.N46insFs
c.137_138insA
2 papers
NM_000191.3
p.N46K
c.138T>G
1 paper
NM_000191.3
p.N46S
c.137A>G
1 paper
NM_000191.3
p.K48Q
c.142A>C
11 papers
NM_000191.3
p.K48N
c.144G>T
10 papers
NM_000191.3
p.K48N
c.144G>C
8 papers
NM_000191.3
p.D42E
c.126T>G
7 papers
NM_000191.3
p.D42E
c.126T>A
8 papers
NM_000191.3
p.D42G
c.125A>G
3 papers
NM_000191.3
p.D42A
c.125A>C
8 papers
NM_000191.3
p.D42H
c.124G>C
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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."