Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.R236C
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KCNQ3

NM_004519.4:p.R236C

Associated Papers

Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.

Arun AS et al.

The Pharmacogenomics Journal, 2025

40044654 (PubMed )
Supplement: 41397_2025_364_MOESM3_ESM.xlsx › Sheet1

Lipophilic compounds restore function to neurodevelopmental-associated KCNQ3 mutations.

Edmond MA et al.

Communications Biology, 2024

KCNQ potassium channels modulate Wnt activity in gastro-oesophageal adenocarcinomas.

Shorthouse D et al.

Life Science Alliance, 2023

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex

Autism-associated mutations in KV7 channels induce gating pore current.

Gamal El-Din TM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
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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."