Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH4
Variant:p.G534S
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NOTCH4

NM_004557.4:p.G534S

Associated Papers

Deep analysis of the major histocompatibility complex genetic associations using covariate analysis and haploblocks unravels new mechanisms for the molecular etiology of Elite Control in AIDS.

Rahmouni M et al.

Bmc Immunology, 2025

39762745 (PubMed )
Supplement: 12865_2024_680_MOESM2_ESM.xlsx › Supp-table5

Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models.

Kong L et al.

Frontiers in Genetics, 2025

41696640 (PubMed )
Supplement: Supplementaryfile1.zip › 20260103_SupMaterial › Supplementary_Table_S4.XLSX › Sheet1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

The HLA-B*57:01 allele corresponds to a very large MHC haploblock likely explaining its massive effect for HIV-1 elite control.

Rahmouni M et al.

Frontiers in Immunology, 2023

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.

Grosche S et al.

Nature Communications, 2021

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

Two Variants in the NOTCH4 and HLA-C Genes Contribute to Familial Clustering of Psoriasis.

Cai M et al.

International Journal of Genomics, 2020

Clinicopathological characteristics and molecular abnormalities of primary grade 2 neuroendocrine tumors of the cervix.

Zhu R et al.

Diagnostic Pathology, 2019

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS.

Le Clerc S et al.

Journal of Acquired Immune Deficiency Syndromes (1999), 2011

Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Prentice HA et al.

Genes and Immunity, 0

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