Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A34V
Back to variants list

CDKN2A

NM_000077.5:p.A34V

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-11.pdf

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

Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex.

Ferdosi S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2021

Novel CDKN2A mutations in Austrian melanoma patients.

Burgstaller-Muehlbacher S et al.

Melanoma Research, 2015

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.

Kiwerska K et al.

Molecular Biology Reports, 2010

High frequency of ultraviolet mutations at the INK4a-ARF locus in squamous cell carcinomas from psoralen-plus-ultraviolet-A-treated psoriasis patients.

Kreimer-Erlacher H et al.

The Journal of Investigative Dermatology, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."