GAA c.305A>G ;(p.Q102R)

Variant ID: 17-78078690-A-G

NM_000152.3(GAA):c.305A>G;(p.Q102R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GAA: 305A>G
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GAA: 305A>G
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Primary and promiscuous functions coexist during evolutionary innovation through whole protein domain acquisitions.

Elife
Escudero, José Antonio JA; Nivina, Aleksandra A; Kemble, Harry E HE; Loot, Céline C; Tenaillon, Olivier O; Mazel, Didier D
Publication Date: 2020-12-15

Variant appearance in text: GAA: Q102R
PubMed Link: 33319743
Variant Present in the following documents:
  • elife-58061.pdf
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GAA: 305A>G
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

Molecular Genetics And Metabolism Reports
AlBanji, Mohammed H MH; AlSaad, Abdulaziz N AN; AlAnazi, Riyam F RF; Aleisa, Zahra A ZA; Alam, Dalya S DS; Alhashim, Aqeela H AH
Publication Date: 2020-12

Variant appearance in text: GAA: 305A>G
PubMed Link: 33101984
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Genome scale analysis of pathogenic variants targetable for single base editing.

Bmc Medical Genomics
Lavrov, Alexander V AV; Varenikov, Georgi G GG; Skoblov, Mikhail Yu MY
Publication Date: 2020-09-18

Variant appearance in text: GAA: 305A>G
PubMed Link: 32948190
Variant Present in the following documents:
  • 12920_2020_735_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page