Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.Q462*
Back to variants list

WT1

NM_024426.6:p.Q462*

Associated Papers

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.

Morote-Faubel M et al.

Human Genomics, 2025

41189001 (PubMed )
Supplement: 40246_2025_842_MOESM1_ESM.pdf

WT1 Gene Pathogenic Variants: Clinical Challenges and Treatment Strategies in Pediatric Nephrology-One Center Practice.

Janek A et al.

International Journal of Molecular Sciences, 2025

Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children.

Glénisson M et al.

Kidney International Reports, 2025

40303223 (PubMed )
Supplement: mmc1.pdf

Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.

Feng Y et al.

Orphanet Journal of Rare Diseases, 2024

39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf

WT1-related disorders: more than Denys-Drash syndrome.

Lopez-Gonzalez M et al.

Pediatric Nephrology (berlin, Germany), 2024

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children.

Chen H et al.

Frontiers in Pediatrics, 2023

The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.

Zhu X et al.

Frontiers in Medicine, 2022

35755072 (PubMed )
Supplement: Data_Sheet_1.PDF

Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic.

Kirwin SM et al.

Delaware Journal of Public Health, 2021

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma.

Arya S et al.

Endocrine Connections, 2021

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.

Mazen I et al.

American Journal of Medical Genetics. Part A, 2021

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Cryptic t(15;17) acute promyelocytic leukemia with a karyotype of add(11)(p15) and t(13,20)- A case report with a literature review.

Gu S et al.

Bosnian Journal of Basic Medical Sciences, 2021

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

Refractory Hypertension in Infantile-Onset Denys-Drash Syndrome.

Nishi K et al.

The Tohoku Journal of Experimental Medicine, 2020

Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature.

Matsuoka D et al.

Bmc Nephrology, 2020

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Nagano C et al.

Scientific Reports, 2020

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.

Halliday BJ et al.

Plos Genetics, 2018

29912901 (PubMed )
Supplement: pgen.1007399.s002.xlsx › Sheet2

Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Tarlock K et al.

Oncotarget, 2018

29899868 (PubMed )
Supplement: oncotarget-09-26417-s005.xlsx › genomics

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.

Tan W et al.

Pediatric Nephrology (berlin, Germany), 2018

Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

Cho Y et al.

Scientific Reports, 2017

Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.

Wang Y et al.

Gene, 2017

Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.

Alge JL et al.

Bmc Nephrology, 2017

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

Wang F et al.

Pediatric Nephrology (berlin, Germany), 2017

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Bierzynska A et al.

Kidney International, 2017

Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting.

Siji A et al.

Bmc Medical Genetics, 2017

Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy.

Ahn YH et al.

Pediatric Nephrology (berlin, Germany), 2017

WT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.

Mazen I et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017

Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia.

Madan V et al.

Leukemia, 2016

27063598 (PubMed )
Supplement: leu201669x7.xls › Sheet_1

Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.

Lehnhardt A et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2015

Genotype-phenotype associations in WT1 glomerulopathy.

Lipska BS et al.

Kidney International, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."