Varaico: Literature-Extracted Genetic Variants

Gene:C7
Variant:p.T598S
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C7

NM_000587.4:p.T598S

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Comprehensive Update and Revision of Nomenclature on Complement C6 and C7 Variants.

Massri M et al.

Journal of Immunology (baltimore, Md. : 1950), 2022

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-A8-A0A6-01A.domain

Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.

Bavarva JH et al.

Oncotarget, 2014

24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf

Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease.

Kuijpers TW et al.

Molecular Immunology, 2010

Five new polymorphisms in the complement C7 gene and their association with C7 deficiency.

Fernie BA et al.

Experimental and Clinical Immunogenetics, 1999

The molecular basis of C6 deficiency in the western Cape, South Africa.

Hobart MJ et al.

Human Genetics, 1998

Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

Fernie BA et al.

Human Genetics, 1998

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