Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.Y301*

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.Y301*
c.903T>G
Surrounding Variants
4 papers
NM_024884.3
p.Y301*
c.903T>A
15 papers
NM_024884.3
p.P302L
c.905C>T
3 papers
NM_024884.3
p.P302_V303Splc
c.906+1G>T
1 paper
NM_024884.3
p.P302_V303Splc
c.906+1G>C
5 papers
NM_024884.3
p.V296E
c.887T>A
1 paper
NM_024884.3
p.L295delFs
c.883delG
1 paper
NM_024884.3
p.K292*
c.874A>T
1 paper
NM_024884.3
p.P290L
c.869C>T
1 paper
NM_024884.3
p.L286L
c.856C>T
1 paper
NM_024884.3
p.D284_Y285delFs
c.852_855del4
1 paper
NM_024884.3
p.Y285delFs
c.853delA
1 paper
NM_024884.3
p.Y285fs
c.853_854fs
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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."