Varaico: Literature-Extracted Genetic Variants

Gene:EP400
Variant:p.E2170K
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EP400

NM_015409.5:p.E2170K

Associated Papers

Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.

Luo S et al.

American Journal of Human Genetics, 2025

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models.

Morimoto Y et al.

Translational Psychiatry, 2021

33602898 (PubMed )
Supplement: 41398_2021_1258_MOESM3_ESM.docx
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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."