Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.W324*

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.W324*
c.971G>A
Surrounding Variants
1 paper
NM_024884.3
p.W324*
c.972G>A
1 paper
NM_024884.3
p.G321S
c.961G>A
1 paper
NM_024884.3
p.D320delFs
c.959delT
11 papers
NM_024884.3
p.R335*
c.1003C>T
2 papers
NM_024884.3
p.R335Q
c.1004G>A
1 paper
NM_024884.3
p.G312insFs
c.936dupA
3 papers
NM_024884.3
p.E336K
c.1006G>A
1 paper
NM_024884.3
p.Y338fs
c.1012_1013fs
1 paper
NM_024884.3
p.Y338insFs
c.1012dupT
2 papers
NM_024884.3
p.R339fs
c.1015_1016fs
8 papers
NM_024884.3
p.R339delFs
c.1015delT
1 paper
NM_024884.3
p.R339fs
c.1015_1016fs
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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."