Varaico: Literature-Extracted Genetic Variants

Gene:ASXL2
Variant:p.Q598*
Back to variants list

ASXL2

NM_018263.6:p.Q598*

Associated Papers

Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features.

Minotti C et al.

Molecular Syndromology, 2025

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM10_ESM.xlsx › SuppTable7_eMIBC-Somatic_alt

Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2023

A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.

Yuan M et al.

Translational Pediatrics, 2023

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS2
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."