Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.L153F
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TMC6

NM_001127198.5:p.L153F

Associated Papers

Uncovering rare somatic variants in olfactory receptor genes in Pakistani triple-negative breast cancer patients.

Shawana S et al.

Bmc Cancer, 2025

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6-TMC8 and SIX3-SIX2 loci associated with HbA1c.

Hachiya T et al.

Scientific Reports, 2017

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

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

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Holmen OL et al.

Nature Genetics, 2014

24633158 (PubMed )
Supplement: NIHMS570373-supplement-1.pdf

Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis.

Zuo YG et al.

Journal of Dermatological Science, 2006

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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."