CP c.2039A>G ;(p.Q680R)

Variant ID: 3-148904345-T-C

NM_000096.3(CP):c.2039A>G;(p.Q680R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: CP: Q680R
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



Effect of Genetic Variants of Gonadotropins and Their Receptors on Ovarian Stimulation Outcomes: A Delphi Consensus.

Frontiers In Endocrinology
Conforti, Alessandro A; Tüttelmann, Frank F; Alviggi, Carlo C; Behre, Hermann M HM; Fischer, Robert R; Hu, Liang L; Polyzos, Nikolaos P NP; Chuderland, Dana D; Rama Raju, Gottumukkala Achyuta GA; D'Hooghe, Thomas T; Simoni, Manuela M; Sunkara, Sesh K SK; Longobardi, Salvatore S
Publication Date: 2021

Variant appearance in text: CP: 2039A>G
PubMed Link: 35178027
Variant Present in the following documents:
  • fendo-12-797365.pdf
View BVdb publication page



Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women.

Clinical And Experimental Reproductive Medicine
Sindiani, Amer Mahmoud AM; Batiha, Osamah O; Al-Zoubi, Esra'a E; Khadrawi, Sara S; Alsoukhni, Ghadeer G; Alkofahi, Ayesha A; Alahmad, Nour Alhoda NA; Shaaban, Sherin S; Alshdaifat, Eman E; Abu-Halima, Masood M
Publication Date: 2021-03

Variant appearance in text: CP: 2039A>G
PubMed Link: 33503363
Variant Present in the following documents:
  • cerm-2020-03706.pdf
View BVdb publication page



THE FREQUENCY OF FOLLICLE-STIMULATING HORMONE RECEPTOR 2039A>G GENE POLYMORPHISM AND THE RISK OF MALE INFERTILITY IN ALBANIAN POPULATION.

Acta Clinica Croatica
Shkelzen, Elezaj E; Paić, Frane F; Stipoljev, Feodora F; Gashi, Zafer Z; Zeqiraj, Afrim A; Lila, Albert A; Nikuševa Martić, Tamara T
Publication Date: 2020-03

Variant appearance in text: CP: 2039A>G
PubMed Link: 32724273
Variant Present in the following documents:
  • acc-59-37.pdf
View BVdb publication page



Pharmacogenetics of FSH Action in the Male.

Frontiers In Endocrinology
Schubert, Maria M; Pérez Lanuza, Lina L; Gromoll, Jörg J
Publication Date: 2019

Variant appearance in text: CP: 2039A>G
PubMed Link: 30873114
Variant Present in the following documents:
  • fendo-10-00047.pdf
View BVdb publication page



Frequency of the T307A, N680S, and -29G>A single-nucleotide polymorphisms in the follicle-stimulating hormone receptor in Mexican subjects of Hispanic ancestry.

Reproductive Biology And Endocrinology : Rb&E
García-Jiménez, Gabriela G; Zariñán, Teresa T; Rodríguez-Valentín, Rocío R; Mejía-Domínguez, Nancy R NR; Gutiérrez-Sagal, Rubén R; Hernández-Montes, Georgina G; Tovar, Armando A; Arechavaleta-Velasco, Fabián F; Canto, Patricia P; Granados, Julio J; Moreno-Macias, Hortensia H; Tusié-Luna, Teresa T; Pellicer, Antonio A; Ulloa-Aguirre, Alfredo A
Publication Date: 2018-10-19

Variant appearance in text: CP: 2039A>G
PubMed Link: 30340493
Variant Present in the following documents:
  • Main text
  • 12958_2018_Article_420.pdf
View BVdb publication page



The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis.

Bmc Medical Genetics
Wu, Qiuyue Q; Zhang, Jing J; Zhu, Peiran P; Jiang, Weijun W; Liu, Shuaimei S; Ni, Mengxia M; Zhang, Mingchao M; Li, Weiwei W; Zhou, Qing Q; Cui, Yingxia Y; Xia, Xinyi X
Publication Date: 2017-08-01

Variant appearance in text: CP: 2039A>G
PubMed Link: 28764642
Variant Present in the following documents:
  • 12881_2017_Article_441.pdf
View BVdb publication page