Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.R38*
Back to variants list

SDHD

NM_003002.4:p.R38*

Associated Papers

Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.

Ambulkar KS et al.

Endocrine Connections, 2025

40981001 (PubMed )
Supplement: supplementary_materials.pdf

Head and Neck Malignant Paragangliomas: Experience from a Single Institution.

Ding Y et al.

Ear, Nose, & Throat Journal, 2024

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

High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.

Guha A et al.

Frontiers in Endocrinology, 2023

An exploration in pitfalls in interpreting SDHB immunohistochemistry.

Ding CC et al.

Histopathology, 2022

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Savatt JM et al.

Bmc Medicine, 2022

SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB/NF1 loss yields SDHx-like pheochromocytomas.

Armstrong N et al.

Cell Reports, 2022

35235785 (PubMed )
Supplement: NIHMS1785223-supplement-1.pdf

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

Kim JH et al.

Journal of Medical Genetics, 2022

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

35966080 (PubMed )
Supplement: Table_1.xlsx › Table_S4

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Yonamine M et al.

Cancers, 2021

Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management.

Guha A et al.

Biomedicines, 2021

Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.

Snezhkina AV et al.

International Journal of Molecular Sciences, 2020

Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Bao M et al.

Journal of Medical Genetics, 2020

Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.

Snezhkina AV et al.

Frontiers in Genetics, 2020

33391357 (PubMed )
Supplement: Data_Sheet_1.PDF

SDHD gene mutation in Mexican population with carotid body tumor.

Enríquez-Vega ME et al.

Cirugia Y Cirujanos, 2019

Exome analysis of carotid body tumor.

Snezhkina AV et al.

Bmc Medical Genomics, 2018

SDHD gene mutation in Mexican population whit carotid body tumor.

Enríquez-Vega ME et al.

Cirugia Y Cirujanos, 2018

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.

Burnichon N et al.

Journal of Medical Genetics, 2017

A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

Bourdeau I et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.

Michałowska I et al.

Polish Journal of Radiology, 2016

Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.

Michałowska I et al.

Neuroendocrinology, 2015

Genetic and clinical characteristics of head and neck paragangliomas in a Chinese population.

Zheng X et al.

The Laryngoscope, 2012

Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

Lodish MB et al.

Endocrine-related Cancer, 2010

Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

Erlic Z et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Systematic screening and treatment evaluation of hereditary neck paragangliomas.

Fish JH et al.

Head & Neck, 2007

Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.

Velasco A et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2005

New genetic causes of pheochromocytoma: current concepts and the clinical relevance.

Neumann HP et al.

The Keio Journal of Medicine, 2005

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

Neumann HP et al.

Jama, 2004

Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

Riemann K et al.

Cancer Genetics and Cytogenetics, 2004

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Gimenez-Roqueplo AP et al.

Cancer Research, 2003

The pressure rises: update on the genetics of phaeochromocytoma.

Maher ER et al.

Human Molecular Genetics, 2002

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

Gimenez-Roqueplo AP et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Hereditary paraganglioma targets diverse paraganglia.

Baysal BE

Journal of Medical Genetics, 2002

Clinical report on the L95P mutation in a Dutch family with paraganglioma.

Cremers CW et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2002

Germ-line mutations in nonsyndromic pheochromocytoma.

Neumann HP et al.

The New England Journal of Medicine, 2002

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

Baysal BE et al.

Journal of Medical Genetics, 2002

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Baysal BE et al.

Journal of Molecular Medicine (berlin, Germany), 2001

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

Taschner PE et al.

Genes, Chromosomes & Cancer, 2001

Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

Gimm O et al.

Cancer Research, 2000

Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

Braun S et al.

Anticancer Research, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."