GAA c.41C>G ;(p.A14G)

Variant ID: 17-78078426-C-G

NM_000152.3(GAA):c.41C>G;(p.A14G)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Application of mutational profiling: new functional analyses reveal the tRNA recognition mechanism of tRNA m1A22 methyltransferase (TrmK).

The Journal Of Biological Chemistry
Yamagami, Ryota R; Hori, Hiroyuki H
Publication Date: 2022-11-30

Variant appearance in text: GAA: A14G
PubMed Link: 36462666
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: GAA: A14G
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



New Deoxyribozymes for the Native Ligation of RNA.

Molecules (Basel, Switzerland)
Scheitl, Carolin P M CPM; Lange, Sandra S; Höbartner, Claudia C
Publication Date: 2020-08-11

Variant appearance in text: GAA: A14G
PubMed Link: 32796587
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: GAA: 41C>G; Ala14Gly
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature.

Frontiers In Oncology
Ayres-Silva, Jackline P JP; Bonamino, Martin H MH; Gouveia, Maria E ME; Monte-Mor, Barbara C R BCR; Coutinho, Diego F DF; Daumas, Adelmo H AH; Solza, Cristiana C; Braggio, Esteban E; Zalcberg, Ilana Renault IR
Publication Date: 2018

Variant appearance in text: GAA: Ala14Gly
PubMed Link: 29515972
Variant Present in the following documents:
  • table_1.xlsx, sheet 1
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: GAA: A14G
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 4
View BVdb publication page



Systematic identification of genes with a cancer-testis expression pattern in 19 cancer types.

Nature Communications
Wang, Cheng C; Gu, Yayun Y; Zhang, Kai K; Xie, Kaipeng K; Zhu, Meng M; Dai, Ningbin N; Jiang, Yue Y; Guo, Xuejiang X; Liu, Mingxi M; Dai, Juncheng J; Wu, Linxiang L; Jin, Guangfu G; Ma, Hongxia H; Jiang, Tao T; Yin, Rong R; Xia, Yankai Y; Liu, Li L; Wang, Shouyu S; Shen, Bin B; Huo, Ran R; Wang, Qianghu Q; Xu, Lin L; Yang, Liuqing L; Huang, Xingxu X; Shen, Hongbing H; Sha, Jiahao J; Hu, Zhibin Z
Publication Date: 2016-01-27

Variant appearance in text: GAA: A14G
PubMed Link: 26813108
Variant Present in the following documents:
  • ncomms10499-s6.xlsx, sheet 1
View BVdb publication page



Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One
Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH
Publication Date: 2015

Variant appearance in text: GAA: A14G
PubMed Link: 26670335
Variant Present in the following documents:
  • pone.0144528.s005.xlsx, sheet 1
View BVdb publication page