Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.D38V
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SDHA

NM_004168.4:p.D38V

Associated Papers

Succinate dehydrogenase deficiency-driven succinate accumulation induces drug resistance in acute myeloid leukemia via ubiquitin-cullin regulation.

Chen Y et al.

Nature Communications, 2024

39537588 (PubMed )
Supplement: 41467_2024_53398_MOESM1_ESM.pdf

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants

Inhibition of glucose transport synergizes with chemical or genetic disruption of mitochondrial metabolism and suppresses TCA cycle-deficient tumors.

Olszewski K et al.

Cell Chemical Biology, 2022

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.

Ibrahim A et al.

Archives of Pathology & Laboratory Medicine, 2020

A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Jia S et al.

Bmc Medical Genetics, 2018

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.

van der Tuin K et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

Dumanski JP et al.

Endocrine-related Cancer, 2017

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

Niemeijer ND et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

Evenepoel L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC5_ERR166310

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

Miettinen M et al.

The International Journal of Biochemistry & Cell Biology, 2014

An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).

Nannini M et al.

Journal of Medical Genetics, 2013

Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.

Belinsky MG et al.

Frontiers in Oncology, 2013

SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.

Italiano A et al.

Bmc Cancer, 2012

[Single nucleotide polymorphisms of the genes related with spermatogenesis impairment].

Ying HQ et al.

Zhonghua Nan Ke Xue = National Journal of Andrology, 2011

Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.

Bonache S et al.

International Journal of Andrology, 2007

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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."