Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.L94Q
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CDKN2A

NM_000077.5:p.L94Q

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-data1.xlsx › Raw_data_in_Figure_2B

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

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

In silico analysis of structural and functional consequences in p16INK4A by deleterious nsSNPs associated CDKN2A gene in malignant melanoma.

Rajasekaran R et al.

Biochimie, 2008

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

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

Avbelj M et al.

Melanoma Research, 2003

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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."