Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.N803K
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RB1

NM_000321.3:p.N803K

Associated Papers

A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma.

Fukushima H et al.

Japanese Journal of Clinical Oncology, 2023

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

A cancer derived mutation in the retinoblastoma gene with a distinct defect for LXCXE dependent interactions.

Henley SA et al.

Cancer Cell International, 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."