Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN5
Variant:p.R2222*
Back to variants list

SPTBN5

NM_016642.4:p.R2222*

Associated Papers

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.

Pittman M et al.

Genome Research, 2026

41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Forstner AJ et al.

Translational Psychiatry, 2020

32066727 (PubMed )
Supplement: 41398_2020_732_MOESM5_ESM.xlsx › Supplementary_Table_1
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."