Varaico: Literature-Extracted Genetic Variants

Gene:FANCI
Variant:p.P471R
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FANCI

NM_001113378.2:p.P471R

Associated Papers

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_11

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Molteni E et al.

Blood, 2023

37216690 (PubMed )
Supplement: BLOOD_BLD-2022-019304-mmc1.pdf

RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.

Sora V et al.

Protein Science : a Publication of the Protein Society, 2023

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.

Fierheller CT et al.

Genome Medicine, 2021

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS

Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Kohli M et al.

Ebiomedicine, 2020

32268276 (PubMed )
Supplement: mmc5.xlsx › Germline_SNV

Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.

Przychodzen B et al.

Oncotarget, 2018

29416752 (PubMed )
Supplement: oncotarget-09-2050-s003.xlsx › Sheet1
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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."