Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.S43I
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CDKN2A

NM_000077.5:p.S43I

Associated Papers

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-supp2.xlsx › Appendix_1-table_2

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

Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Gnatenko DV et al.

Blood Advances, 2022

35381074 (PubMed )
Supplement: advancesADV2021005648-suppl1.pdf

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Fokkema IFAC et al.

European Journal of Human Genetics : Ejhg, 2021

34521998 (PubMed )
Supplement: 41431_2021_959_MOESM4_ESM.pdf

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

New doctorial cancer research: germline genetic alterations affecting CDKN2A, MDM2, and CDKN1A in melanoma and breast cancer patients.

Knappskog S

Critical Reviews in Oncogenesis, 2007

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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."