Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R1306Q
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NF1

NM_001042492.3:p.R1306Q

Associated Papers

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.

Selig M et al.

Febs Open Bio, 2025

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

Accetturo M et al.

International Journal of Molecular Sciences, 2020

31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

George SL et al.

European Journal of Cancer (oxford, England : 1990), 2019

31543384 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC01

Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis.

Adachi Y et al.

Molecular and Clinical Oncology, 2019

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s021.xlsx › EC.Drivers.Edited

A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition.

Whittaker SR et al.

Cancer Discovery, 2013

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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."