Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.Q379P
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SATB2

NM_001172509.2:p.Q379P

Associated Papers

Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.

den Hoed J et al.

Hgg Advances, 2026

41139958 (PubMed )
Supplement: mmc1.pdf

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.

Zarate YA et al.

Human Mutation, 2023

40225157 (PubMed )
Supplement: 8200176.f1.zip › Supplementary_File.pdf

Mutation update for the SATB2 gene.

Zarate YA et al.

Human Mutation, 2019

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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."