Varaico: Literature-Extracted Genetic Variants

Gene:LCK
Variant:p.L341P
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LCK

NM_005356.5:p.L341P

Associated Papers

LCK at the crossroad of immunodeficiency and autoimmunity: Mechanisms and therapeutic opportunities.

Woessner NM et al.

Immunology Letters, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation.

Lui VG et al.

The Journal of Experimental Medicine, 2024

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.

Keller B et al.

Journal of Clinical Immunology, 2023

A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.

Lanz AL et al.

Journal of Clinical Immunology, 2023

Naturally Occurring Genetic Alterations in Proximal TCR Signaling and Implications for Cancer Immunotherapy.

Kent A et al.

Frontiers in Immunology, 2021

Molecular Classification of Primary Immunodeficiencies of T Lymphocytes.

Comrie WA et al.

Advances in Immunology, 2018

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

Soler-Palacín P et al.

Frontiers in Immunology, 2018

Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma.

Li SL et al.

The British Journal of Dermatology, 2016

F-actin remodeling defects as revealed in primary immunodeficiency disorders.

Janssen WJ et al.

Clinical Immunology (orlando, Fla.), 2016

Partial defects of T-cell development associated with poor T-cell function.

Notarangelo LD

The Journal of Allergy and Clinical Immunology, 2013

Advances in basic and clinical immunology in 2012.

Chinen J et al.

The Journal of Allergy and Clinical Immunology, 2013

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

Hauck F et al.

The Journal of Allergy and Clinical Immunology, 2012

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