Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.R339W
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CTCF

NM_006565.4:p.R339W

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.

Da Cruz Paula A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

ZFP-CanPred: Predicting the effect of mutations in zinc-finger proteins in cancers using protein language models.

Phogat A et al.

Methods (san Diego, Calif.), 2025

Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.

Valverde de Morales HG et al.

American Journal of Medical Genetics. Part A, 2023

An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.

Price E et al.

Frontiers in Molecular Neuroscience, 2023

37324587 (PubMed )
Supplement: Table_2.xlsx › snvs_all

CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Zhou R et al.

Iscience, 2022

36117989 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Neural network modeling of differential binding between wild-type and mutant CTCF reveals putative binding preferences for zinc fingers 1-2.

Kaplow IM et al.

Bmc Genomics, 2022

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S2.Somatic_Findings_Summary

Structure-function relationships explain CTCF zinc finger mutation phenotypes in cancer.

Bailey CG et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited

Functional roles of CTCF in breast cancer.

Oh S et al.

Bmb Reports, 2017

A genome-wide map of CTCF multivalency redefines the CTCF code.

Nakahashi H et al.

Cell Reports, 2013

Does CTCF mediate between nuclear organization and gene expression?

Ohlsson R et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2010

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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."