Varaico: Literature-Extracted Genetic Variants

Gene:MUC6
Variant:p.S1768T
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MUC6

NM_005961.3:p.S1768T

Associated Papers

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Luan Y et al.

Heliyon, 2025

39959475 (PubMed )
Supplement: mmc2.xlsx › Patient2-snvs

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7602-S4

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

Genomic case report of a low grade bladder tumor metastasis to lung.

Van Every MJ et al.

Bmc Urology, 2018

30176882 (PubMed )
Supplement: 12894_2018_386_MOESM5_ESM.xlsx › Unique_to_upper_tract_tumor

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

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

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."