Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A57T
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CDKN2A

NM_000077.5:p.A57T

Associated Papers

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet2_Double-hit_BE_Lib

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Elife, 2025

40238651 (PubMed )
Supplement: elife-95347-fig2-figsupp3-data1.xlsx › Figure_2-figure_supplement_3A

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Biorxiv : the Preprint Server for Biology, 2025

38234851 (PubMed )
Supplement: media-2.pdf

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

Molecular Heterogeneity of Ewing Sarcoma as Detected by Ion Torrent Sequencing.

Zhang N et al.

Plos One, 2016

Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Sosonkina N et al.

Genes & Genomics, 2014

Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.

Sreevishnupriya K et al.

Science China. Life Sciences, 2012

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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."