Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.D153E
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CDKN2A

NM_000077.5:p.D153E

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-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

Unraveling the genetics of transformed splenic marginal zone lymphoma.

Grau M et al.

Blood Advances, 2023

36995085 (PubMed )
Supplement: BLOODA_ADV-2022-009415-mmc1.xlsx › ST10

Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Peric B et al.

Bmc Medical Genetics, 2008

High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.

Hocevar M et al.

Croatian Medical Journal, 2006

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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."