Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.H92Y

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
2 papers
NM_024884.3
p.H92Y
c.274C>T
Surrounding Variants
1 paper
NM_024884.3
p.H92R
c.275A>G
1 paper
NM_024884.3
p.G95S
c.283G>A
1 paper
NM_024884.3
p.H92_S94del3
c.274_281del9
10 papers
NM_024884.3
p.H98Y
c.292C>T
9 papers
NM_024884.3
p.H98R
c.293A>G
4 papers
NM_024884.3
p.A86Splc
c.257-2A>G
1 paper
NM_024884.3
p.I101T
c.302T>C
1 paper
NM_024884.3
p.Y102*
c.306T>G
1 paper
NM_024884.3
p.Y102*
c.306T>A
1 paper
NM_024884.3
p.E106insFs
c.316dupG
1 paper
NM_024884.3
p.S107Y
c.320C>A
1 paper
NM_024884.3
p.S107delFs
c.320delG
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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."