Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.C179R

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
3 papers
NM_024884.3
p.C179R
c.535T>C
Surrounding Variants
1 paper
NM_024884.3
p.Y178Fs
c.533delinsATTFs
2 papers
NM_024884.3
p.Y178F
c.533A>T
3 papers
NM_024884.3
p.P177_Y178Fs
c.530_533delinsATTFs
5 papers
NM_024884.3
p.P177delFs
c.529delG
1 paper
NM_024884.3
p.R180_G181Splc
c.540+1G>A
2 papers
NM_024884.3
p.P177fs
c.529_530fs
11 papers
NM_024884.3
p.E176D
c.528G>T
8 papers
NM_024884.3
p.E176D
c.528G>C
3 papers
NM_024884.3
p.E176G
c.527A>G
1 paper
NM_024884.3
p.E176insFs
c.526dupG
1 paper
NM_024884.3
p.Q169_K175del7
c.505_524del21
1 paper
NM_024884.3
p.R180_G181Splc
c.540+5G>C
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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."