Varaico: Literature-Extracted Genetic Variants

Gene:ERVW-1
Variant:p.Q260*
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ERVW-1

NM_001130925.2:p.Q260*

Associated Papers

COSMIC-based mutation database enhances identification efficiency of HLA-I immunopeptidome.

Wang F et al.

Journal of Translational Medicine, 2024

38336780 (PubMed )
Supplement: 12967_2023_4821_MOESM4_ESM.xlsx › HEPG2mutations

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details

An approach for developing a blood-based screening panel for lung cancer based on clonal hematopoietic mutations.

Anandakrishnan R et al.

Plos One, 2024

39172974 (PubMed )
Supplement: pone.0307232.s001.zip › SI_Tables_v_7-19-2023.xlsx › S2._Pathogenic_var

Potential immunosuppressive clonal hematopoietic mutations in tumor infiltrating immune cells in breast invasive carcinoma.

Anandakrishnan R et al.

Scientific Reports, 2023

37573441 (PubMed )
Supplement: 41598_2023_40256_MOESM2_ESM.xlsx › S3._Pathogenic_variants

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-s009.xlsx › Blad1

Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing.

Huang J et al.

Frontiers in Cardiovascular Medicine, 2022

35924220 (PubMed )
Supplement: Table_3.XLS › Supplementary_Table_3_1

Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.

Shrestha R et al.

Cancer Research, 2021

33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A et al.

Bmc Medical Genomics, 2020

33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1

Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.

Zlotina A et al.

Frontiers in Genetics, 2018

29963074 (PubMed )
Supplement: Table_1.XLSX › ____1
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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."