Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.R437C
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PIK3CD

NM_005026.5:p.R437C

Associated Papers

Senescent B cells regulate CD38 expression via FOXO1 in pneumonia resulting from PIK3CD (R437C) mutations.

Liu J et al.

Life Medicine, 2025

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Toyama M et al.

Plos One, 2022

35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1
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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."