Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.V288_K289Splc
Back to variants list

LAMP2

NM_002294.3:p.V288_K289Splc

Associated Papers

Danon disease: Two case reports and literature review.

Yu K et al.

Medicine, 2026

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.

Narayan A et al.

Ophthalmic Genetics, 2024

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.

Shalata A et al.

Genes, 2023

37628591 (PubMed )
Supplement: genes-14-01539-s001.zip › genes-2456230-supplementary › Supplementary_FIGURE_and_LAMP2_MUTATIONS_EXCEL_FILES › Table_S1-HGMD_LAMP2_gene_mutations.xlsx › Splicing_--29_mutations

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency.

Nguyen HT et al.

Scientific Reports, 2018

Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.

Dougu N et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."