Varaico: Literature-Extracted Genetic Variants

Gene:CR1
Variant:p.Q1022H
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CR1

NM_000651.6:p.Q1022H

Associated Papers

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

The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.

Herencia-Ropero A et al.

Genome Medicine, 2024

39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV

Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population.

Wodelo W et al.

The Application of Clinical Genetics, 2024

Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.

Flümann R et al.

Blood Cancer Discovery, 2023

36346827 (PubMed )
Supplement: bcd-22-0007_table_s6_suppst6.xlsx › E_Mut_Pat.__4

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Andres EM et al.

Brain Sciences, 2021

35053791 (PubMed )
Supplement: brainsci-12-00047-s001.zip › brainsci-1490268_Tables_S1-7_Dec29-2021.xlsx › Table_S1._137variants

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S2

Spatially conserved motifs in complement control protein domains determine functionality in regulators of complement activation-family proteins.

Ojha H et al.

Communications Biology, 2019

31396570 (PubMed )
Supplement: 42003_2019_529_MOESM4_ESM.xlsx › Sheet3

Whole-Genome Sequencing Identifies a Novel Variation of WAS Gene Coordinating With Heterozygous Germline Mutation of APC to Enhance Hepatoblastoma Oncogenesis.

Zhang L et al.

Frontiers in Genetics, 2018

30619485 (PubMed )
Supplement: Table_6.XLSX › Supplementary_Table_S2

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S13_CC-3_coding_SNVs

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

28098136 (PubMed )
Supplement: ncomms14121-s9.xlsx › Germline_Variants

Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

Forneris F et al.

The Embo Journal, 2016

Innate immune gene polymorphisms in tuberculosis.

Azad AK et al.

Infection and Immunity, 2012

DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.

Qidwai T et al.

Scandinavian Journal of Immunology, 2012

A functional single-nucleotide polymorphism in the CR1 promoter region contributes to protection against cerebral malaria.

Teeranaipong P et al.

The Journal of Infectious Diseases, 2008

Large-scale candidate gene study of tuberculosis susceptibility in the Karonga district of northern Malawi.

Fitness J et al.

The American Journal of Tropical Medicine and Hygiene, 2004

Quantitative alleles of CR1: coding sequence analysis and comparison of haplotypes in two ethnic groups.

Xiang L et al.

Journal of Immunology (baltimore, Md. : 1950), 1999

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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."