Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHANK2

Variant:p.P1123fs

Back to variants list

SHANK2

NM_012309.5:p.P1123fs

hg38:chr11:70486926 GGG>N

Associated Papers

Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns.

Silver H et al.

Journal of Neurodevelopmental Disorders, 2025

40307697 (PubMed )

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."