Varaico: Literature-Extracted Genetic Variants

Gene:D2HGDH
Variant:p.G355S
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D2HGDH

NM_152783.5:p.G355S

Associated Papers

Molecular characterization of medulloblastomas with extensive nodularity (MBEN).

Korshunov A et al.

Acta Neuropathologica, 2018

Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.

Nordfors K et al.

Cold Spring Harbor Molecular Case Studies, 2018

29602769 (PubMed )
Supplement: supp_mcs.a002246_Supplemental_Table_1.xlsx › Only_in_child

D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.

Lin AP et al.

Nature Communications, 2015

26178471 (PubMed )
Supplement: ncomms8768-s1.pdf

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A4-01A.domain

Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.

Brehmer S et al.

Neuropathology and Applied Neurobiology, 2011

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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."