Varaico: Literature-Extracted Genetic Variants

Gene:D2HGDH
Variant:p.A227V
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D2HGDH

NM_001287249.2:p.A227V

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Expressed mutated genes in Sezary syndrome and their potential prognostic value in patients treated with extracorporeal photopheresis.

Cristofoletti C et al.

Frontiers in Immunology, 2025

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

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-A07G-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."