Varaico: Literature-Extracted Genetic Variants

Gene:RB1CC1
Variant:p.D221N
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RB1CC1

NM_014781.5:p.D221N

Associated Papers

Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2.

Hu L et al.

Nature Communications, 2025

Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention.

Pelizzo G et al.

Pediatric Reports, 2021

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Germline
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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."