Varaico: Literature-Extracted Genetic Variants

Gene:FCGR1A
Variant:p.R92*
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FCGR1A

NM_000566.4:p.R92*

Associated Papers

Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis.

Ozer L et al.

Clinical Rheumatology, 2025

Fc gamma receptors: Their evolution, genomic architecture, genetic variation, and impact on human disease.

Frampton S et al.

Immunological Reviews, 2024

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.

Ballonová L et al.

Frontiers in Genetics, 2023

37470035 (PubMed )
Supplement: Table1.XLSX › Table_S3_Deleterious_gene_varia

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Hou YC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Single Nucleotide Polymorphisms of the High Affinity IgG Receptor FcγRI Reduce Immune Complex Binding and Downstream Effector Functions.

Brandsma AM et al.

Journal of Immunology (baltimore, Md. : 1950), 2017

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7

Functional characteristics of the high affinity IgG receptor, FcγRI.

van der Poel CE et al.

Journal of Immunology (baltimore, Md. : 1950), 2011

Revealing a Heterozygous FCGR1A Variant in a Patient with Uveal Melanoma and Von Hippel-Lindau Syndrome: A Rare Case Report.

Azimi F et al.

Journal of Current Ophthalmology, 0

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