Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1336*
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NF1

NM_001042492.3:p.Q1336*

Associated Papers

High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.

Zambelli V et al.

Endocrine Pathology, 2025

41123735 (PubMed )
Supplement: 12022_2025_9883_MOESM4_ESM.xlsx › Foglio1

Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2025

40867048 (PubMed )
Supplement: gkaf812_supplemental_files.zip › Supplementary_Table_S9_List_of__mutations_Cell_lines.xlsx › cancer_drivers

NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes.

Chang M et al.

Acta Neuropathologica Communications, 2024

39472976 (PubMed )
Supplement: 40478_2024_1875_MOESM5_ESM.xlsx › Supplementary_Table_1

The Pan-RAF-MEK Nondegrading Molecular Glue NST-628 Is a Potent and Brain-Penetrant Inhibitor of the RAS-MAPK Pathway with Activity across Diverse RAS- and RAF-Driven Cancers.

Ryan MB et al.

Cancer Discovery, 2024

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

The Molecular Context of Vulnerability for CDK9 Suppression in Triple Wild-Type Melanoma.

Guhan SM et al.

The Journal of Investigative Dermatology, 2021

Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Wegscheid ML et al.

Cell Reports, 2021

34233200 (PubMed )
Supplement: NIHMS1722138-supplement-1.pdf

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S3

Juvenile papillomatosis of the breast (Swiss cheese disease) has frequent associations with PIK3CA and/or AKT1 mutations.

Guillet C et al.

Human Pathology, 2020

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Newell F et al.

Nature Communications, 2019

RAS nucleotide cycling underlies the SHP2 phosphatase dependence of mutant BRAF-, NF1- and RAS-driven cancers.

Nichols RJ et al.

Nature Cell Biology, 2018

Cell Dispersal Influences Tumor Heterogeneity and Introduces a Bias in NGS Data Interpretation.

Pongor L et al.

Scientific Reports, 2017

28779157 (PubMed )
Supplement: 41598_2017_7487_MOESM5_ESM.xls › A375_MEWO_calibration

ERBB activation modulates sensitivity to MEK1/2 inhibition in a subset of driver-negative melanoma.

Hutchinson KE et al.

Oncotarget, 2015

26084293 (PubMed )
Supplement: oncotarget-06-22348-s003.xlsx › Sheet1

BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib.

Ranzani M et al.

Pigment Cell & Melanoma Research, 2015

25243813 (PubMed )
Supplement: pcmr0028-0117-sd4.xlsx › Table_S1

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.

Xu W et al.

International Journal of Molecular Medicine, 2014

Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence.

Nissan MH et al.

Cancer Research, 2014

Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.

Barretina J et al.

Nature Genetics, 2010

20601955 (PubMed )
Supplement: NIHMS212743-supplement-4.xlsx › Supplementary_Table_3

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R et al.

American Journal of Human 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."