Varaico: Literature-Extracted Genetic Variants

Gene:AASS
Variant:p.V140L
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AASS

NM_005763.4:p.V140L

Associated Papers

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

Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.

Richter S et al.

Endocrine-related Cancer, 2022

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.

Rijken JA et al.

Cancers, 2019

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.

Rijken JA et al.

Bjs Open, 2018

The emerging role and targetability of the TCA cycle in cancer metabolism.

Anderson NM et al.

Protein & Cell, 2018

Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

Ricketts CJ et al.

The Journal of Urology, 2012

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ et al.

Human Mutation, 2010

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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."