GINS1 c.247C>T ;(p.R83C)

Variant ID: 20-25398748-C-T

NM_021067.3(GINS1):c.247C>T;(p.R83C)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GINS1: 247C>T; Arg83Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: GINS1: 247C>T; rs137901350
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
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: GINS1: R83C
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: GINS1: R83C; rs137901350
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.

Journal Of Medical Genetics
Nabais Sá, Maria J MJ; Miller, Kerry A KA; McQuaid, Mary M; Koelling, Nils N; Wilkie, Andrew O M AOM; Wurtele, Hugo H; de Brouwer, Arjan P M APM; Oliveira, Jorge J
Publication Date: 2022-08

Variant appearance in text: GINS1: 247C>T; Arg83Cys
PubMed Link: 34353863
Variant Present in the following documents:
  • jmedgenet-2020-107572supp007.xlsx, sheet 12
View BVdb publication page



Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

International Journal Of Molecular Sciences
Schmit, Megan M; Bielinsky, Anja-Katrin AK
Publication Date: 2021-01-18

Variant appearance in text: GINS1: 247C>T; R83C
PubMed Link: 33477564
Variant Present in the following documents:
  • Main text
  • ijms-22-00911.pdf
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: GINS1: R83C
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Genomic characterization of metastatic ultra-hypermutated interdigitating dendritic cell sarcoma through rapid research autopsy.

Oncotarget
Chen, Hui-Zi HZ; Bonneville, Russell R; Yu, Lianbo L; Wing, Michele R MR; Reeser, Julie W JW; Krook, Melanie A MA; Miya, Jharna J; Samorodnitsky, Eric E; Smith, Amy A; Martin, Dorrelyn D; Dao, Thuy T; Guo, Qishan Q; Liebner, David D; Freud, Aharon G AG; Allenby, Patricia P; Roychowdhury, Sameek S
Publication Date: 2019-01-08

Variant appearance in text: GINS1: R83C; rs137901350
PubMed Link: 30719225
Variant Present in the following documents:
  • oncotarget-10-277-s002.xlsx, sheet 2
  • oncotarget-10-277-s002.xlsx, sheet 4
  • oncotarget-10-277-s002.xlsx, sheet 8
  • oncotarget-10-277-s006.xlsx, sheet 1
  • oncotarget-10-277-s002.xlsx, sheet 1
  • oncotarget-10-277-s002.xlsx, sheet 10
  • oncotarget-10-277-s002.xlsx, sheet 7
  • oncotarget-10-277-s002.xlsx, sheet 5
  • oncotarget-10-277-s002.xlsx, sheet 3
  • oncotarget-10-277-s002.xlsx, sheet 9
  • oncotarget-10-277-s002.xlsx, sheet 6
View BVdb publication page



Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

The Journal Of Clinical Investigation
Cottineau, Julien J; Kottemann, Molly C MC; Lach, Francis P FP; Kang, Young-Hoon YH; Vély, Frédéric F; Deenick, Elissa K EK; Lazarov, Tomi T; Gineau, Laure L; Wang, Yi Y; Farina, Andrea A; Chansel, Marie M; Lorenzo, Lazaro L; Piperoglou, Christelle C; Ma, Cindy S CS; Nitschke, Patrick P; Belkadi, Aziz A; Itan, Yuval Y; Boisson, Bertrand B; Jabot-Hanin, Fabienne F; Picard, Capucine C; Bustamante, Jacinta J; Eidenschenk, Céline C; Boucherit, Soraya S; Aladjidi, Nathalie N; Lacombe, Didier D; Barat, Pascal P; Qasim, Waseem W; Hurst, Jane A JA; Pollard, Andrew J AJ; Uhlig, Holm H HH; Fieschi, Claire C; Michon, Jean J; Bermudez, Vladimir P VP; Abel, Laurent L; de Villartay, Jean-Pierre JP; Geissmann, Frédéric F; Tangye, Stuart G SG; Hurwitz, Jerard J; Vivier, Eric E; Casanova, Jean-Laurent JL; Smogorzewska, Agata A; Jouanguy, Emmanuelle E
Publication Date: 2017-05-01

Variant appearance in text: GINS1: 247C>T; R83C
PubMed Link: 28414293
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: GINS1: R83C
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page