Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.R358*
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PIK3R1

NM_181523.3:p.R358*

Associated Papers

Clinical and genetic findings of individuals tested using the navigateAPDS genetic testing program.

Campbell E et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2026

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Kuehn JC et al.

Npj Precision Oncology, 2024

39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3

Arginines of the CGN codon family are Achilles' heels of cancer genes.

Trexler M et al.

Scientific Reports, 2024

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Robinson PS et al.

Nature Communications, 2022

35803914 (PubMed )
Supplement: 41467_2022_31341_MOESM4_ESM.xlsx › Supplementary_Data_Table_3

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › gene_aberrations

Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Robinson PS et al.

Nature Genetics, 2021

34594041 (PubMed )
Supplement: 41588_2021_930_MOESM3_ESM.xlsx › Supplementary_Table_3

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2b

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › All_Calls

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED et al.

Nature, 2020

32499645 (PubMed )
Supplement: EMS85907-supplement-Supplementary_Information.pdf

Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

He CY et al.

Clinical and Translational Medicine, 2020

32508039 (PubMed )
Supplement: CTM2-10-353-s003.xlsx › Table_S3

Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Han SW et al.

Plos One, 2013

23700467 (PubMed )
Supplement: pone.0064271.s004.xlsx › Sheet1

Identification of mutations in distinct regions of p85 alpha in urothelial cancer.

Ross RL et al.

Plos One, 2013

PIK3R1 (p85α) is somatically mutated at high frequency in primary endometrial cancer.

Urick ME et al.

Cancer Research, 2011

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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."