Varaico: Literature-Extracted Genetic Variants

Gene:C7
Variant:p.S389T
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C7

NM_000587.4:p.S389T

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

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese.

Zhang DF et al.

National Science Review, 2019

31032141 (PubMed )
Supplement: nwy127_supplemental_file.doc

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 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

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci.

Scheetz TE et al.

Plos One, 2013

Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.

Ki CS et al.

Journal of Korean Medical Science, 2005

Single nucleotide polymorphisms in the human complement C6 and C7 genes.

Nishimukai H et al.

Legal Medicine (tokyo, Japan), 2003

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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."