Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.P2242S
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NF1

NM_001042492.3:p.P2242S

Associated Papers

Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.

Park YH et al.

Scientific Reports, 2025

41413429 (PubMed )
Supplement: 41598_2025_26481_MOESM2_ESM.xlsx › Supplementary_Table_S2

Morphological, immunohistochemical and molecular analysis of follicular dendritic cell sarcomas: L1CAM as a new diagnostic marker.

Schelbert S et al.

Histopathology, 2025

40289262 (PubMed )
Supplement: HIS-87-258-s001.zip › his15458-sup-0003-Supplementary_Table_2-4_revised_changes_highlighted.xlsx › Table_S2

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 › NF1

Genetic and Clinical Characteristics of ARID1A Mutated Melanoma Reveal High Tumor Mutational Load without Implications on Patient Survival.

Thielmann CM et al.

Cancers, 2022

35565222 (PubMed )
Supplement: cancers-14-02090-s001.zip › cancers-1666969_Supplementary_material.pdf

Children with 5'-end NF1 gene mutations are more likely to have glioma.

Anastasaki C et al.

Neurology. Genetics, 2017

28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment.

Pros E et al.

European Journal of Human Genetics : Ejhg, 2010

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

Ars E et al.

Journal of Medical Genetics, 2003

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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."