Varaico: Literature-Extracted Genetic Variants

Gene:FANCM
Variant:p.K117R
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FANCM

NM_020937.4:p.K117R

Associated Papers

RAD51C-XRCC3 complex regulates FANCM-mediated R-loop resolution to safeguard genome integrity.

Sahoo S et al.

Science Advances, 2026

Structural basis of Fanconi anemia pathway activation by FANCM.

Bythell-Douglas R et al.

The Embo Journal, 2025

The TONSL-MMS22L complex and FANCM form an interdependent complex on chromatin to counter replication stress.

Zhou H et al.

Biorxiv : the Preprint Server for Biology, 2025

Profound synthetic lethality between SMARCAL1 and FANCM.

Feng S et al.

Molecular Cell, 2024

Mechanism of structure-specific DNA binding by the FANCM branchpoint translocase.

Abbouche L et al.

Nucleic Acids Research, 2024

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

FANCM branchpoint translocase: Master of traverse, reverse and adverse DNA repair.

Abbouche L et al.

Dna Repair, 2024

Branchpoint translocation by fork remodelers as a general mechanism of R-loop removal.

Hodson C et al.

Cell Reports, 2022

The Protexin complex counters resection on stalled forks to promote homologous recombination and crosslink repair.

Adeyemi RO et al.

Molecular Cell, 2021

The ZGRF1 Helicase Promotes Recombinational Repair of Replication-Blocking DNA Damage in Human Cells.

Brannvoll A et al.

Cell Reports, 2020

FANCM suppresses DNA replication stress at ALT telomeres by disrupting TERRA R-loops.

Pan X et al.

Scientific Reports, 2019

The FANCM-BLM-TOP3A-RMI complex suppresses alternative lengthening of telomeres (ALT).

Lu R et al.

Nature Communications, 2019

ALTernative Functions for Human FANCM at Telomeres.

Domingues-Silva B et al.

Frontiers in Molecular Biosciences, 2019

The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription.

Schwab RA et al.

Molecular Cell, 2015

The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder.

Walden H et al.

Annual Review of Biophysics, 2014

Architecture and DNA recognition elements of the Fanconi anemia FANCM-FAAP24 complex.

Coulthard R et al.

Structure (london, England : 1993), 2013

ATR-dependent phosphorylation of FANCM at serine 1045 is essential for FANCM functions.

Singh TR et al.

Cancer Research, 2013

FANCM and FAAP24 maintain genome stability via cooperative as well as unique functions.

Wang Y et al.

Molecular Cell, 2013

The ATPase activity of Fml1 is essential for its roles in homologous recombination and DNA repair.

Nandi S et al.

Nucleic Acids Research, 2012

The DNA translocase activity of FANCM protects stalled replication forks.

Blackford AN et al.

Human Molecular Genetics, 2012

Cytokinesis failure occurs in Fanconi anemia pathway-deficient murine and human bone marrow hematopoietic cells.

Vinciguerra P et al.

The Journal of Clinical Investigation, 2010

The FANCM/FAAP24 complex is required for the DNA interstrand crosslink-induced checkpoint response.

Huang M et al.

Molecular Cell, 2010

MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM.

Singh TR et al.

Molecular Cell, 2010

The FANCM family of DNA helicases/translocases.

Whitby MC

Dna Repair, 2010

FANCM regulates DNA chain elongation and is stabilized by S-phase checkpoint signalling.

Luke-Glaser S et al.

The Embo Journal, 2010

FANCM-FAAP24 and HCLK2: roles in ATR signalling and the Fanconi anemia pathway.

Horejŝí Z et al.

Cell Cycle (georgetown, Tex.), 2009

FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex.

Collis SJ et al.

Molecular Cell, 2008

FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair.

Xue Y et al.

Human Molecular Genetics, 2008

The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks.

Gari K et al.

Molecular Cell, 2008

Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM.

Ciccia A et al.

Molecular Cell, 2007

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.

Meetei AR et al.

Nature Genetics, 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."