Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.Q579_Y580del0
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PIK3R1

NM_181523.3:p.Q579_Y580del0

Associated Papers

Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition.

Morin G et al.

Embo Molecular Medicine, 2025

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.

Kuentz P et al.

The British Journal of Dermatology, 2024

Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum.

Green TE et al.

Genetics in Medicine Open, 2024

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.

Cottrell CE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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

The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.

Andersson AK et al.

Nature Genetics, 2015

25730765 (PubMed )
Supplement: NIHMS661223-supplement-1.pdf

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

Ross RL et al.

Plos One, 2013

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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."