Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K1
Variant:p.T943_T944del1
Back to variants list

MAP3K1

NM_005921.2:p.T943_T944del1

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_3

Detection of a heterozygous mutation of MAP3K1 in a 16-year-old girl with primary amenorrhea, sex reversal and 47,XXY gonadal dysgenesis.

Chen CP

Taiwanese Journal of Obstetrics & Gynecology, 2025

Cold atmospheric plasma restores skewed macrophage polarization in triple negative breast cancers via enhancing KAT6A acetylation.

Zhu K et al.

Free Radical Biology & Medicine, 2025

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

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.

Kasai S et al.

Pediatric Blood & Cancer, 2024

38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs

EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma.

Martija AA et al.

Acta Neuropathologica Communications, 2023

37936247 (PubMed )
Supplement: 40478_2023_1673_MOESM5_ESM.xlsx › 344996

Identification of novel oncogenes in oral cancer among elderly nonsmokers.

Inoue H et al.

Clinical and Experimental Dental Research, 2023

Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

El Khoury LY et al.

Clinical Epigenetics, 2023

37120552 (PubMed )
Supplement: 13148_2023_1471_MOESM1_ESM.xlsx › S3_Mutations_by_NGS

Characterizing cyclin-dependent kinase 12(CDK12)-altered aggressive prostate cancer: a twelve-case series.

Iwasawa T et al.

International Journal of Clinical Oncology, 2022

36271301 (PubMed )
Supplement: 10147_2022_2248_MOESM2_ESM.xlsx › Sheet1

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-s002.xlsx › Table_S2B

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

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.

Nanki Y et al.

Scientific Reports, 2020

32724113 (PubMed )
Supplement: 41598_2020_69488_MOESM2_ESM.xlsx › Sheet1

Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.

Wieben ED et al.

Investigative Ophthalmology & Visual Science, 2019

31469403 (PubMed )
Supplement: iovs-60-10-11_s03.pdf

Somatic mutational profiles of stage II and III gastric cancer according to tumor microenvironment immune type.

Koh J et al.

Genes, Chromosomes & Cancer, 2019

Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.

Liu F et al.

Therapeutic Advances in Medical Oncology, 2019

31205508 (PubMed )
Supplement: Supplemental_Table_3.xlsx › Sheet1

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1

Clonality, Heterogeneity, and Evolution of Synchronous Bilateral Ovarian Cancer.

Yin X et al.

Cancer Research, 2017

28972072 (PubMed )
Supplement: 00085472can171461-sup-183444_3_supp_4263540_vw5qwj.xlsx › S5

Evaluation of whole exome sequencing by targeted gene sequencing and Sanger sequencing.

Chang YS et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx

Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.

Nichols AC et al.

Archives of Otolaryngology--head & Neck Surgery, 2012

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."