Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.E142*

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.E142*
c.424G>T
Surrounding Variants
1 paper
NM_024884.3
p.V141G
c.422T>G
5 papers
NM_024884.3
p.A140P
c.418G>C
1 paper
NM_024884.3
p.K136_L137Splc
c.409-1G>T
3 papers
NM_024884.3
p.L149R
c.446T>G
1 paper
NM_024884.3
p.L152L
c.454C>T
3 papers
NM_024884.3
p.Y153*
c.459T>G
4 papers
NM_024884.3
p.Y153*
c.459T>A
1 paper
NM_024884.3
p.K155delFs
c.465delT
1 paper
NM_024884.3
p.G156fs
c.466_467fs
6 papers
NM_024884.3
p.G156V
c.467G>T
1 paper
NM_024884.3
p.Q158*
c.472C>T
1 paper
NM_024884.3
p.V161delFs
c.482_483delGA
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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."