Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.R251*

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
6 papers
NM_024884.3
p.R251*
c.751C>T
Surrounding Variants
1 paper
NM_024884.3
p.I250L
c.748A>C
1 paper
NM_024884.3
p.E249D
c.747A>T
1 paper
NM_024884.3
p.E249D
c.747A>C
1 paper
NM_024884.3
p.R251_C252delFs
c.753_756del4
1 paper
NM_024884.3
p.Y254H
c.760T>C
2 papers
NM_024884.3
p.K246_G247Splc
c.739-2A>G
4 papers
NM_024884.3
p.C258R
c.772T>C
1 paper
NM_024884.3
p.G260R
c.778G>A
3 papers
NM_024884.3
p.G260V
c.779G>T
6 papers
NM_024884.3
p.G260A
c.779G>C
1 paper
NM_024884.3
p.L261delFs
c.782_783delAA
5 papers
NM_024884.3
p.S263L
c.788C>T
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