Varaico: Literature-Extracted Genetic Variants

Gene:LCP1
Variant:p.I232F
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LCP1

NM_002298.5:p.I232F

Associated Papers

Germ line LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis.

van Bergen T et al.

Blood Advances, 2026

Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.

Dupré L et al.

Nature Reviews. Immunology, 2025

40931027 (PubMed )
Supplement: 41577_2025_1214_MOESM1_ESM.pdf

L-plastin associated syndrome of immune deficiency and hematologic cytopenia.

Hernandez RA et al.

The Journal of Allergy and Clinical Immunology, 2024

Lymphocyte cytosolic protein 1 (L-plastin) I232F mutation impairs granulocytic proliferation and causes neutropenia.

Mahat U et al.

Blood Advances, 2022

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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."