Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Y779*
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TSC2

NM_000548.5:p.Y779*

Associated Papers

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma.

Roldan-Romero JM et al.

International Journal of Cancer, 2020

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Kwiatkowski DJ et al.

European Journal of Human Genetics : Ejhg, 2015

25782670 (PubMed )
Supplement: ejhg201547x2.xls › mutation_data
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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."