Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.S2155F
Back to variants list

ARID1B

NM_001374828.1:p.S2155F

Associated Papers

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.

Bosch E et al.

Human Genetics, 2024

39028335 (PubMed )
Supplement: 439_2024_2688_MOESM1_ESM.xlsx › missense_clinvar
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."