Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA1
Variant:p.V384M
Back to variants list

SMARCA1

NM_001282874.2:p.V384M

Associated Papers

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Mirzaa GM et al.

Nature Communications, 2025

Hemizygous SMARCA1 variants cause X-linked intellectual disability.

Nishimura N et al.

Journal of Human Genetics, 2025

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Homann OR et al.

Molecular Psychiatry, 2016

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."