Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.R512W
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PIK3CD

NM_005026.5:p.R512W

Associated Papers

A gain-of-function PIK3CD variant, R512W, impairs T cell function through polyamine-dependent metabolic dysregulation.

Kiyota K et al.

Biochemical and Biophysical Research Communications, 2025

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › All_Subtypes__mutations_

Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Thouenon R et al.

Frontiers in Pediatrics, 2021

Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.

Kiyota K et al.

European Journal of Medical Genetics, 2018

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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."