Varaico: Literature-Extracted Genetic Variants

Gene:MUC6
Variant:p.T1518I
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MUC6

NM_005961.3:p.T1518I

Associated Papers

Primary pulmonary histiocytic sarcoma with CNS metastasis: a case report and molecular profiling insights.

Chen K et al.

Frontiers in Oncology, 2026

41727642 (PubMed )
Supplement: Table4.xlsx › Lung.Predisposing_gene

Genome-wide CRISPR screens reveal synthetic lethal interaction between CREBBP and EP300 in diffuse large B-cell lymphoma.

Nie M et al.

Cell Death & Disease, 2021

33911074 (PubMed )
Supplement: 41419_2021_3695_MOESM9_ESM.xlsx › S2._Mutations_in_RC-K8

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

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Babbs C et al.

Journal of Medical Genetics, 2020

32005695 (PubMed )
Supplement: jmedgenet-2019-106528supp001.pdf

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia.

Fan X et al.

Frontiers in Genetics, 2020

Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.

Takahashi K et al.

Human Genome Variation, 2018

30302266 (PubMed )
Supplement: 41439_2018_28_MOESM5_ESM.xlsx › 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."