Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.R606C
Back to variants list

SKIC2

NM_006929.5:p.R606C

Associated Papers

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.

Topping J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

39492681 (PubMed )
Supplement: ART-77-582-s004.pdf

Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.

Karakus IS et al.

Journal of Clinical Immunology, 2024

38578569 (PubMed )
Supplement: 10875_2024_1682_MOESM4_ESM.xlsx › All_biallelic

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf
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."