Varaico: Literature-Extracted Genetic Variants

Gene:FANCI
Variant:p.R1285Q
Back to variants list

FANCI

NM_001113378.2:p.R1285Q

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Possible link between the apparently pathogenic FANCI variant and beneficial effects in sports performance.

Berdyński M et al.

Frontiers in Genetics, 2026

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

Fierheller CT et al.

Genes, 2023

36833203 (PubMed )
Supplement: genes-14-00277-s001.zip › 09.11.22_Supplementary_tables_v9.xlsx › 5

FANCI functions as a repair/apoptosis switch in response to DNA crosslinks.

Shah RB et al.

Developmental Cell, 2021

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Thompson AS et al.

Molecular Genetics & Genomic Medicine, 2021

33960719 (PubMed )
Supplement: MGG3-9-e1693-s005.docx

Structure of the FA core ubiquitin ligase closing the ID clamp on DNA.

Wang S et al.

Nature Structural & Molecular Biology, 2021

Structural insight into FANCI-FANCD2 monoubiquitination.

Li L et al.

Essays in Biochemistry, 2020

Differential functions of FANCI and FANCD2 ubiquitination stabilize ID2 complex on DNA.

Rennie ML et al.

Embo Reports, 2020

DNA clamp function of the monoubiquitinated Fanconi anaemia ID complex.

Wang R et al.

Nature, 2020

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

Toward automation of germline variant curation in clinical cancer genetics.

Ravichandran V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S7

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Savage SA et al.

American Journal of Medical Genetics. Part A, 2016

Regulation of FANCD2 and FANCI monoubiquitination by their interaction and by DNA.

Longerich S et al.

Nucleic Acids Research, 2014

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

Walden H et al.

Annual Review of Biophysics, 2014

FANCI protein binds to DNA and interacts with FANCD2 to recognize branched structures.

Yuan F et al.

The Journal of Biological Chemistry, 2009

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.

Smogorzewska A et al.

Cell, 2007

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."