Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.A524V
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SDHA

NM_004168.4:p.A524V

Associated Papers

A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.

Kent JD et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Assembly of mitochondrial succinate dehydrogenase in human health and disease.

Cao K et al.

Free Radical Biology & Medicine, 2023

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

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Marra F et al.

Biomolecules, 2021

Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Nicolas E et al.

Molecular Genetics & Genomic Medicine, 2019

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

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

28546994 (PubMed )
Supplement: MGG3-5-237-s001.docx

Mitochondrial Complex II: At the Crossroads.

Bezawork-Geleta A et al.

Trends in Biochemical Sciences, 2017

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy.

Ma YY et al.

Brain & Development, 2014

Complex II deficiency--a case report and review of the literature.

Jain-Ghai S et al.

American Journal of Medical Genetics. Part A, 2013

Structural basis for malfunction in complex II.

Iverson TM et al.

The Journal of Biological Chemistry, 2012

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.

Favier J et al.

Hormone Research, 2005

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.

Van Coster R et al.

American Journal of Medical Genetics. Part A, 2003

A role for mitochondrial enzymes in inherited neoplasia and beyond.

Eng C et al.

Nature Reviews. Cancer, 2003

Cytopathies involving mitochondrial complex II.

Ackrell BA

Molecular Aspects of Medicine, 2002

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Baysal BE et al.

Journal of Molecular Medicine (berlin, Germany), 2001

The genetic basis of isolated mitochondrial complex II deficiency.

Fullerton M et al.

Molecular Genetics and Metabolism, 0

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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."