Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH

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
1–12 of 259 variants
15 papers
NM_024884.3
p.P302L
c.905C>T
14 papers
NM_024884.3
p.G55D
c.164G>A
14 papers
NM_024884.3
p.K81E
c.241A>G
11 papers
NM_024884.3
p.E176D
c.528G>T
11 papers
NM_024884.3
p.Y195C
c.584A>G
11 papers
NM_024884.3
p.R335*
c.1003C>T
10 papers
NM_024884.3
p.H98Y
c.292C>T
9 papers
NM_024884.3
p.G57R
c.169G>C
9 papers
NM_024884.3
p.G57R
c.169G>A
9 papers
NM_024884.3
p.G60R
c.178G>A
9 papers
NM_024884.3
p.H98R
c.293A>G
8 papers
NM_024884.3
p.G60R
c.178G>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."