Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.Q50L
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CDKN2A

NM_000077.5:p.Q50L

Associated Papers

A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.

Shi Y et al.

Signal Transduction and Targeted Therapy, 2025

41326340 (PubMed )
Supplement: 41392_2025_2481_MOESM1_ESM.docx

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-supp10.xlsx › Appendix_1-table_10

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-11.pdf

Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.

Nian R et al.

International Journal of Oncology, 2022

35796015 (PubMed )
Supplement: Supplementary_Data9.xlsx › Sheet1

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

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Wadt KA et al.

Plos One, 2015

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

Pastorino L et al.

Pigment Cell & Melanoma Research, 2008

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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."