Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.R262Q
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NF2

NM_000268.4:p.R262Q

Associated Papers

Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2.

Gupta S et al.

American Journal of Ophthalmology Case Reports, 2025

Functional annotation of the Hippo pathway somatic mutations in human cancers.

Han H et al.

Nature Communications, 2024

39572544 (PubMed )
Supplement: 41467_2024_54480_MOESM3_ESM.zip › Supplementary_Data › Supplementary_Data_3.xlsx › NF2

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P5-dominant

Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.

Lechner A et al.

Frontiers in Oncology, 2024

38706595 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

35332608 (PubMed )
Supplement: HUMU-43-643-s001.xlsx › Sheet1

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s102.xlsx › shared_calls_primary-mCRPC

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon
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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."