Varaico: Literature-Extracted Genetic Variants

Gene:OR5A1
Variant:p.D183N
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OR5A1

NM_001004728.2:p.D183N

Associated Papers

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

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

Genetic and functional odorant receptor variation in the Homo lineage.

de March CA et al.

Iscience, 2023

36691623 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Genetic variation in the human olfactory receptor OR5AN1 associates with the perception of musks.

Sato-Akuhara N et al.

Chemical Senses, 2023

From musk to body odor: Decoding olfaction through genetic variation.

Li B et al.

Plos Genetics, 2022

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

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1

Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth.

Fry E et al.

Genome Biology and Evolution, 2020

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Reimann E et al.

Human Genomics, 2014

25496518 (PubMed )
Supplement: 40246_2014_20_MOESM1_ESM.xlsx › Sheet1
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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."