Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.T2391S
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RANBP2

NM_006267.5:p.T2391S

Associated Papers

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.

Kouri C et al.

Ebiomedicine, 2025

40037090 (PubMed )
Supplement: mmc2.pdf

Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.

Behrens D et al.

Cancers, 2023

38136299 (PubMed )
Supplement: cancers-15-05753-s001.zip › Behrens_Cancers2023_SuppTables.xlsx › Table_S1

WILMS TUMOR MUTATIONAL SUBCLASSES CONVERGE TO DRIVE CCND2 OVEREXPRESSION.

Xu L et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778325 (PubMed )
Supplement: media-4.xlsx › Sheet1

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Aguiar T et al.

Frontiers in Genetics, 2022

35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3

Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.

Frank MS et al.

Cancers, 2021

35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2

Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Priedigkeit N et al.

Breast Cancer Research : Bcr, 2021

33407744 (PubMed )
Supplement: 13058_2020_1379_MOESM2_ESM.xlsx › S4

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

McCreary D et al.

Jama Network Open, 2019

31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf

Organoid Models of Human Liver Cancers Derived from Tumor Needle Biopsies.

Nuciforo S et al.

Cell Reports, 2018

30067989 (PubMed )
Supplement: mmc5.xlsx › Sheet1

A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.

Delpire E et al.

Cold Spring Harbor Molecular Case Studies, 2016

Complex genomic rearrangements lead to novel primate gene function.

Ciccarelli FD et al.

Genome Research, 2005

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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."