Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.P308L
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KCNQ2

NM_172107.4:p.P308L

Associated Papers

Ion permeation through a narrow cavity constriction in KCNQ1 channels: Mechanism and implications for pathogenic variants.

Mkrtchyan L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

39671184 (PubMed )
Supplement: pnas.2411182121.sapp.pdf

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.

Saez-Matia A et al.

International Journal of Molecular Sciences, 2024

38474157 (PubMed )
Supplement: ijms-25-02910-s001.zip › Supp_Data_3_KCNQ2_All_Predictions.xlsx › CatBoost

KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.

Lee IC et al.

Cells, 2022

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM10_ESM.xlsx › Sheet1
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