ADORA1 c.622C>T ;(p.R208C)

Variant ID: 1-203134669-C-T

NM_000674.2(ADORA1):c.622C>T;(p.R208C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Dynamic spatiotemporal determinants modulate GPCR:G protein coupling selectivity and promiscuity.

Nature Communications
Sandhu, Manbir M; Cho, Aaron A; Ma, Ning N; Mukhaleva, Elizaveta E; Namkung, Yoon Y; Lee, Sangbae S; Ghosh, Soumadwip S; Lee, John H JH; Gloriam, David E DE; Laporte, Stéphane A SA; Babu, M Madan MM; Vaidehi, Nagarajan N
Publication Date: 2022-12-02

Variant appearance in text: rs148415221
PubMed Link: 36460632
Variant Present in the following documents:
  • 41467_2022_34055_MOESM11_ESM.xlsx, sheet 4
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: ADORA1: 622C>T; R208C; rs148415221
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.

Oncogene
Raimondi, Francesco F; Inoue, Asuka A; Kadji, Francois M N FMN; Shuai, Ni N; Gonzalez, Juan-Carlos JC; Singh, Gurdeep G; de la Vega, Alicia Alonso AA; Sotillo, Rocio R; Fischer, Bernd B; Aoki, Junken J; Gutkind, J Silvio JS; Russell, Robert B RB
Publication Date: 2019-09

Variant appearance in text: ADORA1: R208C
PubMed Link: 31337866
Variant Present in the following documents:
  • 41388_2019_895_MOESM2_ESM.xlsx, sheet 11
View BVdb publication page



Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.

Journal Of Cancer
Robbins, Charles J CJ; Bou-Dargham, Mayassa J MJ; Sanchez, Kevin K; Rosen, Matthew C MC; Sang, Qing-Xiang Amy QA
Publication Date: 2018

Variant appearance in text: ADORA1: 622C>T; R208C
PubMed Link: 30588243
Variant Present in the following documents:
  • jcav09p4596s2.xlsx, sheet 1
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: ADORA1: R208C
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: ADORA1: R208C
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ADORA1: R208C
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page