Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.N306I
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TMC8

NM_152468.5:p.N306I

Associated Papers

Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.

Gaebler C et al.

Nature, 2026

41326734 (PubMed )
Supplement: 41586_2025_9893_MOESM5_ESM.xlsx › filtered_HIV_CD4_binding_putati

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Development and Characterisation of a New Patient-Derived Xenograft Model of AR-Negative Metastatic Castration-Resistant Prostate Cancer.

Turnham DJ et al.

Cells, 2024

Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage.

Page GP et al.

The Journal of Clinical Investigation, 2021

Cervical dysplasia in a patient with inherited epidermodysplasia verruciformis-A mere coincidence?

Singh AP et al.

Journal of Cutaneous Pathology, 2021

A novel homozygous DOCK8 mutation associated with unusual coexistence of gross molluscum contagiosum and epidermodysplasia verruciformis in a DOCK8 deficiency patient.

Liu YQ et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.

Imahorn E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult.

Tahiat A et al.

The Journal of Allergy and Clinical Immunology, 2017

The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients.

Kalińska-Bienias A et al.

Postepy Dermatologii I Alergologii, 2016

Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis.

Kalinska-Bienias A et al.

Clinical and Experimental Dermatology, 2015

Risk of Cutaneous Squamous Cell Carcinoma Development in Renal Transplant Recipients Is Independent of TMC/EVER Alterations.

Burger B et al.

Dermatology (basel, Switzerland), 2015

Characterization of skin lesions induced by skin-tropic α- and β-papillomaviruses in a patient with epidermodysplasia verruciformis.

Borgogna C et al.

The British Journal of Dermatology, 2014

EVER2 protein binds TRADD to promote TNF-α-induced apoptosis.

Gaud G et al.

Cell Death & Disease, 2013

TLR-3 polymorphism is an independent prognostic marker for stage II colorectal cancer.

Castro FA et al.

European Journal of Cancer (oxford, England : 1990), 2011

Homozygosity for the c.917A→T (p.N306l) polymorphism in the EVER2/TMC8 gene of two sisters with epidermodysplasia verruciformis Lewandowsky-Lutz originally described by Wilhelm Lutz.

Arnold AW et al.

Dermatology (basel, Switzerland), 2011

Epidermodysplasia verruciformis in lipoid proteinosis: case report and discussion of pathophysiology.

O'Blenes C et al.

Pediatric Dermatology, 0

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