Varaico: Literature-Extracted Genetic Variants

Gene:OR51Q1
Variant:p.R236*
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OR51Q1

NM_001004757.2:p.R236*

Associated Papers

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M et al.

Human Genetics, 2024

39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_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

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.

Clark JSC et al.

Scientific Reports, 2023

37816715 (PubMed )
Supplement: 41598_2023_43323_MOESM1_ESM.xlsx › Sheet1

Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Block T et al.

Frontiers in Oncology, 2022

36582804 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Prioritising positively selected variants in whole-genome sequencing data using FineMAV.

Wahyudi F et al.

Bmc Bioinformatics, 2021

34922440 (PubMed )
Supplement: 12859_2021_4506_MOESM2_ESM.xlsx › SSMP

Whole-Genome Profiles of Malay Colorectal Cancer Patients with Intact MMR Proteins.

Juhari WKW et al.

Genes, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.

Chu G et al.

Cancer Medicine, 2019

30977266 (PubMed )
Supplement: CAM4-8-1996-s001.pdf

Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

Tanisawa K et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017

27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S3

Premature termination codons in modern human genomes.

Fujikura K

Scientific Reports, 2016

26932450 (PubMed )
Supplement: srep22468-s1.pdf

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00012-Table_S15.xlsx › Sheet1

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s004.xlsx › Sheet1

Common null variant, Arg192Stop, in a G-protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity.

Koyano S et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2008

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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."