Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A148V
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CDKN2A

NM_000077.5:p.A148V

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

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

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

Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Gotoh O et al.

Nature Communications, 2019

31672974 (PubMed )
Supplement: 41467_2019_12985_MOESM8_ESM.xlsx › Suppl_Data_5

Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Oberg JA et al.

Genome Medicine, 2016

28007021 (PubMed )
Supplement: 13073_2016_389_MOESM5_ESM.xlsx › VOUS
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