Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.T241R
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BRAF

NM_004333.6:p.T241R

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

RAS and SHOC2 Roles in RAF Activation and Therapeutic Considerations.

Bonsor DA et al.

Annual Review of Cancer Biology, 2024

Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.

Maloberti T et al.

Diagnostics (basel, Switzerland), 2024

38667446 (PubMed )
Supplement: diagnostics-14-00800-s001.zip › Supplementary_Table_S1.xlsx › Foglio1

Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.

Chen Q et al.

Heliyon, 2024

38463782 (PubMed )
Supplement: mmc1.pdf

RASopathy mutations provide functional insight into the BRAF cysteine-rich domain and reveal the importance of autoinhibition in BRAF regulation.

Spencer-Smith R et al.

Molecular Cell, 2022

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Battaglia DI et al.

Genes, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Wu-Chou YH et al.

Journal of Biomedical Science, 2018

Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.

Hassan MM et al.

Advances in Bioinformatics, 2016

BRAF gene: From human cancers to developmental syndromes.

Hussain MR et al.

Saudi Journal of Biological Sciences, 2015

RASopathies: Clinical Diagnosis in the First Year of Life.

Digilio MC et al.

Molecular Syndromology, 2011

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Sarkozy A et al.

Human Mutation, 2009

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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."