Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R997Splc
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NF1

NM_001042492.3:p.R997Splc

Associated Papers

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S12

Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Yin XQ et al.

Frontiers in Oncology, 2022

35936718 (PubMed )
Supplement: Table_4.xlsx › MAF_infomation

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants

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

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 2019

Female genitourinary tract melanoma: mutation analysis with clinicopathologic correlation: a single-institution experience.

Saglam O et al.

Melanoma Research, 2018

Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.

Palma Milla C et al.

Annals of Human Genetics, 2018

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.

Serra E et al.

Human Molecular Genetics, 2000

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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."