Varaico: Literature-Extracted Genetic Variants

Gene:ZNF717
Variant:p.C302Y
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ZNF717

NM_001290208.3:p.C302Y

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

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

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.

van der Welle REN et al.

Embo Molecular Medicine, 2021

33851776 (PubMed )
Supplement: EMMM-13-e13258-s002.zip › Dataset_EV1.xlsx › Sheet1

Tumor mutation burden and recurrent tumors in hereditary lung cancer.

Hsu YC et al.

Cancer Medicine, 2019

30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants

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

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303
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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."