Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.V126I
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CDKN2A

NM_000077.5:p.V126I

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-fig1-data1.xlsx › Figure_1

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

Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.

Chang YK et al.

International Journal of Molecular Sciences, 2022

36142267 (PubMed )
Supplement: ijms-23-10353-s001.zip › ijms-1910530-supplementary.pdf

The feather pattern autosomal barring in chicken is strongly associated with segregation at the MC1R locus.

Schwochow D et al.

Pigment Cell & Melanoma Research, 2021

Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Kiefer KC et al.

Esc Heart Failure, 2021

33779075 (PubMed )
Supplement: EHF2-8-1873-s002.xlsx › Sheet1

Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.

Sikora P et al.

Polish Archives of Internal Medicine, 2020

Gene mutations in stool from gastric and colorectal neoplasia patients by next-generation sequencing.

Youssef O et al.

World Journal of Gastroenterology, 2017

Application of a multi-gene next-generation sequencing panel to a non-invasive oesophageal cell-sampling device to diagnose dysplastic Barrett's oesophagus.

Katz-Summercorn A et al.

The Journal of Pathology. Clinical Research, 2017

29085666 (PubMed )
Supplement: CJP2-3-258-s004.xlsx › Sheet1

RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).

Scheckenbach K et al.

Oral Oncology, 2014

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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."