Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.N310I
Back to variants list

SLC6A1

NM_003042.4:p.N310I

Associated Papers

Computational Analysis of GAT1 Mutations: Functional Consequences from Molecular Dynamics and Binding Free Energy Calculations.

Yasir M et al.

International Journal of Molecular Sciences, 2025

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Silva DB et al.

American Journal of Human Genetics, 2024

38781976 (PubMed )
Supplement: mmc10.pdf

Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders.

Fischer FP et al.

Frontiers in Molecular Biosciences, 2022

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."