Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.Q821_G822Splc
Back to variants list

RECQL4

NM_004260.4:p.Q821_G822Splc

Associated Papers

Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.

Nahom D et al.

Familial Cancer, 2025

40779059 (PubMed )
Supplement: 10689_2025_489_MOESM1_ESM.pdf

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2025

39315505 (PubMed )
Supplement: PCMR-38-0-s002.xlsx › Table_S2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Frequency of Deleterious Germline Variants in HER2-Low Breast Cancer Patients Using a Hereditary Multipanel Gene Testing.

Cassoli JPB et al.

Current Issues in Molecular Biology, 2024

Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia-a case-control study.

Junk SV et al.

Leukemia, 2024

The Role of Germline Mutations in Thoracic Malignancies: Between Myth and Reality.

Farinea G et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2023

Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.

Pietzak EJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

Molecular Mechanisms of the RECQ4 Pathogenic Mutations.

Xu X et al.

Frontiers in Molecular Biosciences, 2021

Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.

Aoude LG et al.

Scientific Reports, 2020

Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.

Carlo MI et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Maciaszek JL et al.

Cold Spring Harbor Molecular Case Studies, 2019

31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S4

Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.

Cadoo KA et al.

Jco Precision Oncology, 2019

Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability.

Raj N et al.

Jco Precision Oncology, 2018

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."