GAA c.266G>T ;(p.R89L)

Variant ID: 17-78078651-G-T

NM_000152.3(GAA):c.266G>T;(p.R89L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Monitoring of the SARS-CoV-2 Omicron BA.1/BA.2 lineage transition in the Swedish population reveals increased viral RNA levels in BA.2 cases.

Med (New York, N.Y.)
Lentini, Antonio A; Pereira, Antonio A; Winqvist, Ola O; Reinius, Björn B
Publication Date: 2022-09-09

Variant appearance in text: GAA: R89L
PubMed Link: 35981541
Variant Present in the following documents:
  • mmc7.xlsx, sheet 1
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: GAA: 266G>T
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Metabolites
Saville, Jennifer T JT; Fuller, Maria M
Publication Date: 2021-07-08

Variant appearance in text: GAA: 266G>T
PubMed Link: 34357340
Variant Present in the following documents:
  • Main text
  • metabolites-11-00446.pdf
View BVdb publication page



Neuronal differentiation and cell-cycle programs mediate response to BET-bromodomain inhibition in MYC-driven medulloblastoma.

Nature Communications
Bandopadhayay, Pratiti P; Piccioni, Federica F; O'Rourke, Ryan R; Ho, Patricia P; Gonzalez, Elizabeth M EM; Buchan, Graham G; Qian, Kenin K; Gionet, Gabrielle G; Girard, Emily E; Coxon, Margo M; Rees, Matthew G MG; Brenan, Lisa L; Dubois, Frank F; Shapira, Ofer O; Greenwald, Noah F NF; Pages, Melanie M; Balboni Iniguez, Amanda A; Paolella, Brenton R BR; Meng, Alice A; Sinai, Claire C; Roti, Giovanni G; Dharia, Neekesh V NV; Creech, Amanda A; Tanenbaum, Benjamin B; Khadka, Prasidda P; Tracy, Adam A; Tiv, Hong L HL; Hong, Andrew L AL; Coy, Shannon S; Rashid, Rumana R; Lin, Jia-Ren JR; Cowley, Glenn S GS; Lam, Fred C FC; Goodale, Amy A; Lee, Yenarae Y; Schoolcraft, Kathleen K; Vazquez, Francisca F; Hahn, William C WC; Tsherniak, Aviad A; Bradner, James E JE; Yaffe, Michael B MB; Milde, Till T; Pfister, Stefan M SM; Qi, Jun J; Schenone, Monica M; Carr, Steven A SA; Ligon, Keith L KL; Kieran, Mark W MW; Santagata, Sandro S; Olson, James M JM; Gokhale, Prafulla C PC; Jaffe, Jacob D JD; Root, David E DE; Stegmaier, Kimberly K; Johannessen, Cory M CM; Beroukhim, Rameen R
Publication Date: 2019-06-03

Variant appearance in text: GAA: 266G>T; R89M
PubMed Link: 31160565
Variant Present in the following documents:
  • 41467_2019_10307_MOESM8_ESM.xlsx, sheet 17
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: GAA: R89L
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Enzymatic activity analysis and catalytic essential residues identification of Brucella abortus malate dehydrogenase.

Thescientificworldjournal
Han, Xiangan X; Tong, Yongliang Y; Tian, Mingxing M; Zhang, Yuxi Y; Sun, Xiaoqing X; Wang, Shaohui S; Qiu, Xusheng X; Ding, Chan C; Yu, Shengqing S
Publication Date: 2014

Variant appearance in text: GAA: R89L
PubMed Link: 24895685
Variant Present in the following documents:
  • TSWJ2014-973751.pdf
View BVdb publication page