Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R440Q
Back to variants list

NF1

NM_001042492.3:p.R440Q

Associated Papers

Assessing endocrine resistance: monitoring circulating ESR1 mutations in Irosustat-treated ER positive breast cancer.

Page K et al.

Breast Cancer Research and Treatment, 2025

41364261 (PubMed )
Supplement: 10549_2025_7857_MOESM7_ESM.xlsx › Supp_Table_4

Genetic variations in pseudoachondroplasia: a review of case reports.

Petryka L et al.

Laboratory Medicine, 2025

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.

Bonetti E et al.

Human Genomics, 2025

40887659 (PubMed )
Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1

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

Resistance to TRK inhibition mediated by convergent MAPK pathway activation.

Cocco E et al.

Nature Medicine, 2019

31406350 (PubMed )
Supplement: NIHMS1533563-supplement-1.xlsx › Patient_2

Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer.

Aggarwal C et al.

Jama 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-s022.xlsx › CRC.Drivers.Edited

Mutational analysis of multiple lung cancers: Discrimination between primary and metastatic lung cancers by genomic profile.

Goto T et al.

Oncotarget, 2017

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S et al.

Human Mutation, 1998

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."