Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.E268delFs

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
1 paper
NM_024884.3
p.E268delFs
c.803_804delCT
Surrounding Variants
1 paper
NM_024884.3
p.L269S
c.806T>C
5 papers
NM_024884.3
p.E268*
c.802G>T
1 paper
NM_024884.3
p.E268fs
c.802_803fs
1 paper
NM_024884.3
p.S270ins2
c.809_810ins6
1 paper
NM_024884.3
p.S270N
c.809G>A
1 paper
NM_024884.3
p.T257_R265delFs
c.771_793del23
1 paper
NM_024884.3
p.R265C
c.793C>T
5 papers
NM_024884.3
p.S263L
c.788C>T
6 papers
NM_024884.3
p.S263*
c.788C>G
4 papers
NM_024884.3
p.S263*
c.788C>A
1 paper
NM_024884.3
p.L261delFs
c.782_783delAA
8 papers
NM_024884.3
p.R277*
c.829C>T
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