Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.K347R
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TSC2

NM_000548.5:p.K347R

Associated Papers

Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2025

39315505 (PubMed )
Supplement: PCMR-38-0-s002.xlsx › Table_S2

New insights into tuberous sclerosis complex: from structure to pathogenesis.

Chen CS et al.

Frontiers in Cell and Developmental Biology, 2025

40655946 (PubMed )
Supplement: DataSheet1.pdf

Multimodal framework to resolve variants of uncertain significance in TSC2.

Biar CG et al.

Biorxiv : the Preprint Server for Biology, 2024

38895336 (PubMed )
Supplement: media-2.xlsx › Table_S2

Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.

Mitiushkina NV et al.

Diagnostics (basel, Switzerland), 2023

37891989 (PubMed )
Supplement: diagnostics-13-03168-s001.zip › diagnostics-2617903-supplementary.pdf

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC2

New Mechanisms of mTOR Pathway Activation in KIT-mutant Malignant GISTs.

Lasota J et al.

Applied Immunohistochemistry & Molecular Morphology : Aimm, 2019

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