Varaico: Literature-Extracted Genetic Variants

Gene:CD19
Variant:p.L174V
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CD19

NM_001770.6:p.L174V

Associated Papers

Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.

Abner E et al.

Nature Communications, 2025

41062462 (PubMed )
Supplement: 41467_2025_64006_MOESM6_ESM.xlsx › Figure1a

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Walker K et al.

Journal of Clinical Immunology, 2023

Clinical Impact of Single Nucleotide Polymorphism in CD-19 on Treatment Outcome in FMC63-CAR-T Cell Therapy.

Seipel K et al.

Cancers, 2023

Functional Screening of Parkinson's Disease Susceptibility Genes to Identify Novel Modulators of α-Synuclein Neurotoxicity in Caenorhabditis elegans.

Vozdek R et al.

Frontiers in Aging Neuroscience, 2022

35572147 (PubMed )
Supplement: Table_1.XLSX › Supp_Table_1

Point mutation in CD19 facilitates immune escape of B cell lymphoma from CAR-T cell therapy.

Zhang Z et al.

Journal for Immunotherapy of Cancer, 2020

Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency.

Mat Ripen A et al.

Sage Open Medicine, 2020

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf
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