Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.R766Q
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RECQL4

NM_004260.4:p.R766Q

Associated Papers

Novel mutations in the RECQL4 gene affect its helicase functions, interactions with the BLM helicase and chemotherapeutics-induced cell death.

Kaczmarczyk A et al.

Cell Death Discovery, 2025

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S3_

TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair.

Moore C et al.

Cold Spring Harbor Molecular Case Studies, 2020

32699065 (PubMed )
Supplement: supp_mcs.a004796_Supplemental_Table_1.xlsx › tier1_cosmic_ge5_coding.vs
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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."