Varaico: Literature-Extracted Genetic Variants

Gene:SHANK1
Variant:p.A6T
Back to variants list

SHANK1

NM_016148.5:p.A6T

Associated Papers

A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.

Qin Y et al.

Molecular Psychiatry, 2022

35388181 (PubMed )
Supplement: 41380_2022_1539_MOESM1_ESM.docx

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Toyama M et al.

Plos One, 2022

35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1
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."