Varaico: Literature-Extracted Genetic Variants

Gene:MUC4
Variant:p.P1952S
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MUC4

NM_018406.7:p.P1952S

Associated Papers

Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss.

Lin ZJ et al.

Journal of Clinical Laboratory Analysis, 2025

40066928 (PubMed )
Supplement: JCLA-39-e70011-s001.xlsx › sTable-4._Mutation_infomation

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Smyk M et al.

Genes, 2023

36980952 (PubMed )
Supplement: genes-14-00680-s001.zip › Supplementary_Table_S5.xlsx › Arkusz1

Human papillomavirus integration perspective in small cell cervical carcinoma.

Wang X et al.

Nature Communications, 2022

36216793 (PubMed )
Supplement: 41467_2022_33359_MOESM21_ESM.xlsx › Supplementary_Data18

A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Warrick JI et al.

Scientific Reports, 2022

36192513 (PubMed )
Supplement: 41598_2022_20927_MOESM14_ESM.xlsx › mutations

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

2-kupl: mapping-free variant detection from DNA-seq data of matched samples.

Wang Y et al.

Bmc Bioinformatics, 2021

34090332 (PubMed )
Supplement: 12859_2021_4185_MOESM3_ESM.xlsx › Table_S2

Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.

Liu X et al.

Npj Precision Oncology, 2021

34007008 (PubMed )
Supplement: 41698_2021_180_MOESM3_ESM.xlsx › Sheet1

Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.

Pandey K et al.

Genes, 2021

33504001 (PubMed )
Supplement: genes-12-00159-s001.zip › genes_-_1049728_-_supplementary › supplementary_tables.xlsx › STable1

Genetic Alterations in Preinvasive Lung Synchronous Lesions.

Ahn S et al.

Cancer Research and Treatment, 2020

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Supplementary_Table_2

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Anastasaki C et al.

Oncotarget, 2017

28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R et al.

Plos Genetics, 2017

28542170 (PubMed )
Supplement: pgen.1006809.s013.xlsx › WGS_-_list_of_variants

A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations.

Liu HZ et al.

Oncotarget, 2017

27835862 (PubMed )
Supplement: oncotarget-08-2708-s002.xls › candidate

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_primary_1

Genomic landscape of adenoid cystic carcinoma of the breast.

Martelotto LG et al.

The Journal of Pathology, 2015

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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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."