Varaico: Literature-Extracted Genetic Variants

Gene:MUC6
Variant:p.R1737P
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MUC6

NM_005961.3:p.R1737P

Associated Papers

Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.

Beddok A et al.

Scientific Reports, 2021

33963205 (PubMed )
Supplement: 41598_2021_88671_MOESM8_ESM.xlsx › Supp_Table_S3

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

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NBL-S

Whole Exome Sequencing Identifies a Novel Hedgehog-Interacting Protein G516R Mutation in Locally Advanced Papillary Thyroid Cancer.

Lee WK et al.

International Journal of Molecular Sciences, 2018

30241415 (PubMed )
Supplement: ijms-19-02867-s001.zip › ijms-347887-for_final_check-Supplementary_Material.pdf

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T et al.

Plos One, 2013

24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1
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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."