Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.D74H
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CDKN2A

NM_000077.5:p.D74H

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-11.pdf

Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Castaneda-Garcia C et al.

Human Molecular Genetics, 2022

35357426 (PubMed )
Supplement: supplementary_table_5_ddac074.xlsx › Supplementary_table_5

Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.

Kimura H et al.

Elife, 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

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
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