Varaico: Literature-Extracted Genetic Variants

Gene:VMA21
Variant:p.R93*
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VMA21

NM_001017980.4:p.R93*

Associated Papers

Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21-related disorders.

Cocchiararo I et al.

Journal of Neuromuscular Diseases, 2025

CaClust: linking genotype to transcriptional heterogeneity of follicular lymphoma using BCR and exomic variants.

Oksza-Orzechowski K et al.

Genome Biology, 2024

Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.

Bai B et al.

Blood Cancer Journal, 2024

39191762 (PubMed )
Supplement: 41408_2024_1124_MOESM2_ESM.xlsx › Table_S3

Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency.

Wang F et al.

Autophagy, 2022

High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.

Tsukamoto T et al.

Scientific Reports, 2017

29070849 (PubMed )
Supplement: 41598_2017_14150_MOESM2_ESM.xlsx › Sheet1

Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma.

Krysiak K et al.

Blood, 2017

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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."