Varaico: Literature-Extracted Genetic Variants

Gene:CDK4
Variant:p.N41S
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CDK4

NM_000075.4:p.N41S

Associated Papers

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

A novel germline mutation in CDK4 codon 24 associated to familial melanoma.

Bottillo I et al.

Clinical Genetics, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_AD

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

Analysing the Effect of Mutation on Protein Function and Discovering Potential Inhibitors of CDK4: Molecular Modelling and Dynamics Studies.

N N et al.

Plos One, 2015

A proteome-scale map of the human interactome network.

Rolland T et al.

Cell, 2014

Mapping differential interactomes by affinity purification coupled with data-independent mass spectrometry acquisition.

Lambert JP et al.

Nature Methods, 2013

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Edgetic perturbation models of human inherited disorders.

Zhong Q et al.

Molecular Systems Biology, 2009

19888216 (PubMed )
Supplement: msb200980-s1.pdf

Cutaneous melanoma susceptibility and progression genes.

de Snoo FA et al.

Cancer Letters, 2005

An NF-kappaB-specific inhibitor, IkappaBalpha, binds to and inhibits cyclin-dependent kinase 4.

Li J et al.

Biochemistry, 2003

Absence of R24C mutation of the CDK4 gene in leukemias and solid tumors.

Mori N et al.

International Journal of Hematology, 2003

Rarity of CDK4 germline mutations in familial melanoma.

Goldstein AM et al.

Melanoma Research, 2002

CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas.

Holland EA et al.

Genes, Chromosomes & Cancer, 1999

Screening of germline mutations in the CDK4, CDKN2C and TP53 genes in familial melanoma: a clinic-based population study.

Platz A et al.

International Journal of Cancer, 1998

Complete scanning of the CDK4 gene by denaturing gradient gel electrophoresis: a novel missense mutation but low overall frequency of mutations in sporadic metastatic malignant melanoma.

Guldberg P et al.

International Journal of Cancer, 1997

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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."