Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.F962S
Back to variants list

CIITA

NM_000246.4:p.F962S

Associated Papers

Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report.

Zhang Y et al.

Asian Pacific Journal of Allergy and Immunology, 2024

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Importance of class II transactivator leucine-rich repeats for dominant-negative function and nucleo-cytoplasmic transport.

Camacho-Carvajal MM et al.

International Immunology, 2004

Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.

Prod'homme T et al.

Immunogenetics, 2003

Leucine-rich repeats of the class II transactivator control its rate of nuclear accumulation.

Harton JA et al.

Human Immunology, 2002

Mutation in the class II trans-activator leading to a mild immunodeficiency.

Wiszniewski W et al.

Journal of Immunology (baltimore, Md. : 1950), 2001

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."