Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.Q126P

L2HGDH

170 papers

RefSeq Summary

This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L...

Pfam Domains

DAOaa 50–456UCSCFAD dependent oxidoreductase

Gene Aliases

HGNC Name

L-2-hydroxyglutarate dehydrogenase

HGNC Previous Symbol

C14orf160

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024884.3
p.Q126P
c.377A>C
Surrounding Variants
2 papers
NM_024884.3
p.G128*
c.382G>T
5 papers
NM_024884.3
p.Y123C
c.368A>G
1 paper
NM_024884.3
p.L120del1
c.358_360delGAG
1 paper
NM_024884.3
p.Q133*
c.397C>T
1 paper
NM_024884.3
p.L119P
c.356T>C
1 paper
NM_024884.3
p.C134*
c.402T>A
1 paper
NM_024884.3
p.G135C
c.403G>T
1 paper
NM_024884.3
p.G135G
c.405C>A
1 paper
NM_024884.3
p.K136fs
c.406_407fs
3 papers
NM_024884.3
p.G116D
c.347G>A
4 papers
NM_024884.3
p.K136R
c.407A>G
3 papers
NM_024884.3
p.K136delFs
c.407delT
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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."