Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.R1161Q
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ERBB2

NM_004448.4:p.R1161Q

Associated Papers

Isocitrate dehydrogenase 1 gene mutations: a case review unveiling its biological impact on disease progression, prognosis and treatment in Chilean patients.

de Mayo Glasser T et al.

Bjr Case Reports, 2025

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

Computational and Functional Analyses of HER2 Mutations Reveal Allosteric Activation Mechanisms and Altered Pharmacologic Effects.

Ishiyama N et al.

Cancer Research, 2023

35503682 (PubMed )
Supplement: can-21-0940_supplementary_data_suppsd.docx

ERBB family fusions are recurrent and actionable oncogenic targets across cancer types.

Schubert L et al.

Frontiers in Oncology, 2023

37168365 (PubMed )
Supplement: Table_3.xlsx › ERBB2_mutations

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms.

Braunstein EM et al.

Cancers, 2021

Oncogenic ERBB2 aberrations and KRAS mutations cooperate to promote pancreatic ductal adenocarcinoma progression.

Li Z et al.

Carcinogenesis, 2020

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_4.xlsx › Heatmap
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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."