Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.D186_C187delFs

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
4 papers
NM_024884.3
p.D186_C187delFs
c.557_560del4
Surrounding Variants
2 papers
NM_024884.3
p.C187Y
c.560G>A
1 paper
NM_024884.3
p.P188S
c.562C>T
2 papers
NM_024884.3
p.H189insFs
c.567dupT
1 paper
NM_024884.3
p.T190I
c.569C>T
1 paper
NM_024884.3
p.I185F
c.553A>T
1 paper
NM_024884.3
p.G191S
c.571G>A
3 papers
NM_024884.3
p.A184V
c.551C>T
1 paper
NM_024884.3
p.M183T
c.548T>C
1 paper
NM_024884.3
p.I192F
c.574A>T
5 papers
NM_024884.3
p.G181V
c.542G>T
1 paper
NM_024884.3
p.D194N
c.580G>A
1 paper
NM_024884.3
p.R180_G181Splc
c.541-2A>T
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