Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.Q197*

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
3 papers
NM_024884.3
p.Q197*
c.589C>T
Surrounding Variants
1 paper
NM_024884.3
p.Q197_V198Fs
c.589_592delinsCTCCAFs
2 papers
NM_024884.3
p.V198G
c.593T>G
11 papers
NM_024884.3
p.Y195C
c.584A>G
1 paper
NM_024884.3
p.D194N
c.580G>A
4 papers
NM_024884.3
p.S201delFs
c.601delA
1 paper
NM_024884.3
p.I192F
c.574A>T
1 paper
NM_024884.3
p.A203S
c.607G>T
1 paper
NM_024884.3
p.G191S
c.571G>A
1 paper
NM_024884.3
p.T190I
c.569C>T
2 papers
NM_024884.3
p.Q204*
c.610C>T
2 papers
NM_024884.3
p.H189insFs
c.567dupT
1 paper
NM_024884.3
p.P188S
c.562C>T
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