Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.V54A

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.V54A
c.161T>C
Surrounding Variants
4 papers
NM_024884.3
p.I53I
c.159C>T
1 paper
NM_024884.3
p.I53S
c.158T>G
14 papers
NM_024884.3
p.G55D
c.164G>A
9 papers
NM_024884.3
p.G57R
c.169G>C
9 papers
NM_024884.3
p.G57R
c.169G>A
1 paper
NM_024884.3
p.G57_V59delFs
c.169_175del7
8 papers
NM_024884.3
p.G60R
c.178G>C
9 papers
NM_024884.3
p.G60R
c.178G>A
2 papers
NM_024884.3
p.G60delFs
c.180delC
1 paper
NM_024884.3
p.S47N
c.140G>A
1 paper
NM_024884.3
p.A62fs
c.184_185fs
7 papers
NM_024884.3
p.A62D
c.185C>A
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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."