Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.Q85H
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CDKN2A

NM_058195.4:p.Q85H

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-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

Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Zivanovic Bujak A et al.

Plos Medicine, 2020

33001984 (PubMed )
Supplement: pmed.1003363.s013.xlsx › S4_Table

Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.

Pellegrini C et al.

Melanoma Research, 2017

Characterization of patients at high risk of melanoma in Austria.

Müller C et al.

The British Journal of Dermatology, 2016

Novel CDKN2A mutations in Austrian melanoma patients.

Burgstaller-Muehlbacher S et al.

Melanoma Research, 2015

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

Harland M et al.

Hereditary Cancer in Clinical Practice, 2014

Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

Cust AE et al.

Journal of Medical Genetics, 2011

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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."