OAS3 c.53G>T ;(p.R18M)

Variant ID: 12-113376388-G-T

NM_006187.2(OAS3):c.53G>T;(p.R18M)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans.

Genome Biology
Zheng, Wangshan W; He, Yaoxi Y; Guo, Yongbo Y; Yue, Tian T; Zhang, Hui H; Li, Jun J; Zhou, Bin B; Zeng, Xuerui X; Li, Liya L; Wang, Bin B; Cao, Jingxin J; Chen, Li L; Li, Chunxia C; Li, Hongyan H; Cui, Chaoying C; Bai, Caijuan C; Baimakangzhuo, ; Qi, Xuebin X; Ouzhuluobu, ; Su, Bing B
Publication Date: 2023-04-13

Variant appearance in text: rs1859330
PubMed Link: 37055782
Variant Present in the following documents:
  • Main text
View BVdb publication page



EV71 3C protease cleaves host anti-viral factor OAS3 and enhances virus replication.

Virologica Sinica
Zhou, Xiaolei X; Tian, Li L; Wang, Jian J; Zheng, Baisong B; Zhang, Wenyan W
Publication Date: 2022-06

Variant appearance in text: rs1859330
PubMed Link: 35504537
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Human Genetics
Fallerini, Chiara C; Picchiotti, Nicola N; Baldassarri, Margherita M; Zguro, Kristina K; Daga, Sergio S; Fava, Francesca F; Benetti, Elisa E; Amitrano, Sara S; Bruttini, Mirella M; Palmieri, Maria M; Croci, Susanna S; Lista, Mirjam M; Beligni, Giada G; Valentino, Floriana F; Meloni, Ilaria I; Tanfoni, Marco M; Minnai, Francesca F; Colombo, Francesca F; Cabri, Enrico E; Fratelli, Maddalena M; Gabbi, Chiara C; Mantovani, Stefania S; Frullanti, Elisa E; Gori, Marco M; Crawley, Francis P FP; Butler-Laporte, Guillaume G; Richards, Brent B; Zeberg, Hugo H; Lipcsey, Miklos M; Hultström, Michael M; Ludwig, Kerstin U KU; Schulte, Eva C EC; Pairo-Castineira, Erola E; Baillie, John Kenneth JK; Schmidt, Axel A; Frithiof, Robert R; , ; , ; , ; Mari, Francesca F; Renieri, Alessandra A; Furini, Simone S
Publication Date: 2022-01

Variant appearance in text: rs1859330
PubMed Link: 34889978
Variant Present in the following documents:
  • Main text
  • 439_2021_Article_2397.pdf
View BVdb publication page



Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Human Genetics
Fallerini, Chiara C; Picchiotti, Nicola N; Baldassarri, Margherita M; Zguro, Kristina K; Daga, Sergio S; Fava, Francesca F; Benetti, Elisa E; Amitrano, Sara S; Bruttini, Mirella M; Palmieri, Maria M; Croci, Susanna S; Lista, Mirjam M; Beligni, Giada G; Valentino, Floriana F; Meloni, Ilaria I; Tanfoni, Marco M; Minnai, Francesca F; Colombo, Francesca F; Cabri, Enrico E; Fratelli, Maddalena M; Gabbi, Chiara C; Mantovani, Stefania S; Frullanti, Elisa E; Gori, Marco M; Crawley, Francis P FP; Butler-Laporte, Guillaume G; Richards, Brent B; Zeberg, Hugo H; Lipcsey, Miklos M; Hultström, Michael M; Ludwig, Kerstin U KU; Schulte, Eva C EC; Pairo-Castineira, Erola E; Baillie, John Kenneth JK; Schmidt, Axel A; Frithiof, Robert R; , ; , ; , ; Mari, Francesca F; Renieri, Alessandra A; Furini, Simone S
Publication Date: 2021-12-10

Variant appearance in text: rs1859330
PubMed Link: 34889978
Variant Present in the following documents:
  • Main text
  • 439_2021_Article_2397.pdf
View BVdb publication page



Identification of Vital Hub Genes and Potential Molecular Pathways of Dermatomyositis by Bioinformatics Analysis.

Biomed Research International
Ouyang, Xueren X; Zeng, Yuning Y; Jiang, Xiaotao X; Xu, Hua H; Ning, Yile Y
Publication Date: 2021

Variant appearance in text: rs1859330
PubMed Link: 34580642
Variant Present in the following documents:
  • BMRI2021-9991726.pdf
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A genomic region associated with protection against severe COVID-19 is inherited from Neandertals.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zeberg, Hugo H; Pääbo, Svante S
Publication Date: 2021-03-02

Variant appearance in text: rs1859330
PubMed Link: 33593941
Variant Present in the following documents:
  • Main text
View BVdb publication page



Study on the differentially expressed genes and signaling pathways in dermatomyositis using integrated bioinformatics method.

Medicine
Liu, Wei W; Zhao, Wen-Jia WJ; Wu, Yuan-Hao YH
Publication Date: 2020-08-21

Variant appearance in text: rs1859330
PubMed Link: 32846838
Variant Present in the following documents:
  • medi-99-e21863.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1859330
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1859330
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1859330
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1859330
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: OAS3: R18M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs1859330
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page