Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.G35V
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CDKN2A

NM_000077.5:p.G35V

Associated Papers

Structural analysis of the impact of germline mutations of p16 in melanoma prone families.

Arun D et al.

Molecular Diversity, 2025

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-11.pdf

Papillary Thyroid Carcinoma: Correlation Between Molecular and Clinical Features.

Wang Q et al.

Molecular Diagnosis & Therapy, 2024

38896179 (PubMed )
Supplement: 40291_2024_721_MOESM1_ESM.xlsx › SNV

Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas.

Wolter M et al.

Acta Neuropathologica Communications, 2022

35361262 (PubMed )
Supplement: 40478_2022_1335_MOESM1_ESM.pdf

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

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

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

33173047 (PubMed )
Supplement: 41467_2020_19342_MOESM7_ESM.xlsx › PGI_fudan_NC_clnical.oc

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.

Scaini MC et al.

Human Mutation, 2014

Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.

Jenkins NC et al.

The Journal of Investigative Dermatology, 2013

Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

Maubec E et al.

Journal of the American Academy of Dermatology, 2012

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

Kannengiesser C et al.

Human Mutation, 2009

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma.

Laud K et al.

Journal of Medical Genetics, 2006

Tumor suppressor p16INK4A: structural characterization of wild-type and mutant proteins by NMR and circular dichroism.

Tevelev A et al.

Biochemistry, 1996

Genomic landscape and actionable mutations of brain metastases derived from non-small cell lung cancer: A systematic review.

Andrews LJ et al.

Neuro-oncology Advances, 0

38130901 (PubMed )
Supplement: vdad145_suppl_supplementary_data.xlsx › Individual_data
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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."