OR2AG2 c.895C>G ;(p.R299G)

Variant ID: 11-6789294-G-C

NM_001004490.1(OR2AG2):c.895C>G;(p.R299G)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: OR2AG2: R299G; rs7924459
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: OR2AG2: R299G
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: OR2AG2: R299G; rs7924459
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: OR2AG2: R299G
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: OR2AG2: 895C>G; R299G; rs7924459
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology
Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A
Publication Date: 2021-02-05

Variant appearance in text: OR2AG2: 895C>G; Arg299Gly; rs7924459
PubMed Link: 33546694
Variant Present in the following documents:
  • 12915_2021_962_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: OR2AG2: 895C>G; R299G; rs7924459
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: OR2AG2: R299G; rs7924459
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: OR2AG2: R299G; rs7924459
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
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: rs7924459
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: OR2AG2: 895C>G; Arg299Gly; rs7924459
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: OR2AG2: R299G; rs7924459
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs7924459
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: OR2AG2: R299G; rs7924459
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: OR2AG2: R299G; rs7924459
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: OR2AG2: Arg299Gly
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s003.xls, sheet 3
View BVdb publication page