Varaico: Literature-Extracted Genetic Variants

Gene:SETD1A
Variant:p.Y1499D
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SETD1A

NM_014712.3:p.Y1499D

Associated Papers

O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.

Mayfield JM et al.

The Journal of Biological Chemistry, 2024

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.

Colijn MA et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2024

H3K4 methylation by SETD1A/BOD1L facilitates RIF1-dependent NHEJ.

Bayley R et al.

Molecular Cell, 2022

35439434 (PubMed )
Supplement: mmc1.pdf

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Kummeling J et al.

Molecular Psychiatry, 2021

SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders.

Wang S et al.

Frontiers in Molecular Neuroscience, 2021

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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."