AGXT c.866G>A ;(p.R289H)

Variant ID: 2-241816973-G-A

NM_000030.2(AGXT):c.866G>A;(p.R289H)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: AGXT: R289H; rs61729604
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



Primary hyperoxaluria type 1: pathophysiology and genetics.

Clinical Kidney Journal
Fargue, Sonia S; Acquaviva Bourdain, Cécile C
Publication Date: 2022-05

Variant appearance in text: PH1: 866G>A
PubMed Link: 35592619
Variant Present in the following documents:
  • Main text
  • sfab217.pdf
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: AGXT: R289H; rs61729604
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.

Bmc Medical Genomics
Murad, Hossam H; Alhalabi, Mohamad Baseel MB; Dabboul, Amir A; Alfakseh, Nour N; Nweder, Mohamad Sayah MS; Zghib, Youssef Y; Wannous, Hala H
Publication Date: 2021-06-03

Variant appearance in text: AGXT: Arg289His
PubMed Link: 34082749
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_996.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: AGXT: R289H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: AGXT: 866G>A; Arg289His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: AGXT: 866G>A; R289H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

Journal Of The American Society Of Nephrology : Jasn
Hopp, Katharina K; Cogal, Andrea G AG; Bergstralh, Eric J EJ; Seide, Barbara M BM; Olson, Julie B JB; Meek, Alicia M AM; Lieske, John C JC; Milliner, Dawn S DS; Harris, Peter C PC; ,
Publication Date: 2015-10

Variant appearance in text: AGXT: R289H
PubMed Link: 25644115
Variant Present in the following documents:
  • Main text
View BVdb publication page



Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Molecular Genetics & Genomic Medicine
Williams, Emma L EL; Bagg, Eleanor A L EA; Mueller, Michael M; Vandrovcova, Jana J; Aitman, Timothy J TJ; Rumsby, Gill G
Publication Date: 2015-01

Variant appearance in text: PH1: 866G>A
PubMed Link: 25629080
Variant Present in the following documents:
  • Main text
  • mgg30003-0069.pdf
View BVdb publication page



A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution.

Acta Histochemica Et Cytochemica
Kawai, Chikage C; Minatogawa, Yohsuke Y; Akiyoshi, Hidetaka H; Hirose, Shinichi S; Suehiro, Tsunatoshi T; Tone, Shigenobu S
Publication Date: 2012-04-26

Variant appearance in text: PH1: R289H
PubMed Link: 22685354
Variant Present in the following documents:
  • Main text
  • ahc-045-121.pdf
View BVdb publication page