Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K1
Variant:p.V906I
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MAP3K1

NM_005921.2:p.V906I

Associated Papers

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.

Miolo G et al.

International Journal of Molecular Sciences, 2025

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-supplementary.pdf

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Giant juvenile fibroadenomas with and without prominent pseudoangiomatous stromal hyperplasia (PASH)-like change: clinicopathological and molecular characteristics.

Jorns JM et al.

Histopathology, 2023

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s007.xlsx › Table_S3C

Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.

Ostrer H

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Yoshizawa T et al.

Npj Precision Oncology, 2021

33863983 (PubMed )
Supplement: 41698_2021_170_MOESM4_ESM.xlsx › Pre_Post_Afatinibshared_variant

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s010.xlsx › Sheet1

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

Chamberlin A et al.

Human Molecular Genetics, 2019

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Sproll P et al.

Molecular Genetics & Genomic Medicine, 2018

Genetic Variation in MAP3K1 Associates with Ventilator-Free Days in Acute Respiratory Distress Syndrome.

Morrell ED et al.

American Journal of Respiratory Cell and Molecular Biology, 2018

Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab.

Madi A et al.

Journal of Medical Genetics, 2017

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Disciglio V et al.

Chinese Journal of Cancer, 2016

27267075 (PubMed )
Supplement: 40880_2016_115_MOESM5_ESM.xlsx › Table_S5

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense
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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."