Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.G500A
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CIITA

NM_000246.4:p.G500A

Associated Papers

Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.

Ibrahim TAM et al.

Journal of Diabetes Research, 2025

41376825 (PubMed )
Supplement: 3346256.f1.pdf

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Beyond the HLA polymorphism: A complex pattern of genetic susceptibility to pemphigus.

Petzl-Erler ML

Genetics and Molecular Biology, 2020

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

The CIITA genetic polymorphism rs4774*C in combination with the HLA-DRB1*15:01 allele as a putative susceptibility factor to multiple sclerosis in Brazilian females.

Paradela ER et al.

Arquivos De Neuro-psiquiatria, 2015

Both qualitative and quantitative genetic variation of MHC class II molecules may influence susceptibility to autoimmune diseases: the case of endemic pemphigus foliaceus.

Piovezan BZ et al.

Human Immunology, 2013

CIITA rs4774 and rs6498122 polymorphisms are associated with oral lichen planus in Chinese people: a case-control study.

Wu D et al.

European Journal of Oral Sciences, 2013

LACTRIMS Abstracts.

Unknown Author

Multiple Sclerosis (houndmills, Basingstoke, England), 2012

The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.

Bronson PG et al.

Genes and Immunity, 2011

CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.

Bronson PG et al.

Human Molecular Genetics, 2010

CIITA or RFX coding region loss of function mutations occur rarely in diffuse large B-cell lymphoma cases and cell lines with low levels of major histocompatibility complex class II expression.

Rimsza LM et al.

Haematologica, 2009

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