GAA c.794G>A ;(p.S265N)

Variant ID: 17-78081457-G-A

NM_000152.3(GAA):c.794G>A;(p.S265N)

This variant was identified in 7 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: 794G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16

Variant appearance in text: GAA: 794G>A; Ser265Asn
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 36
View BVdb publication page



Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Frontiers In Neurology
Chakravorty, Samya S; Nallamilli, Babi Ramesh Reddy BRR; Khadilkar, Satish Vasant SV; Singla, Madhu Bala MB; Bhutada, Ashish A; Dastur, Rashna R; Gaitonde, Pradnya Satish PS; Rufibach, Laura E LE; Gloster, Logan L; Hegde, Madhuri M
Publication Date: 2020

Variant appearance in text: GAA: 794G>A; S265N
PubMed Link: 33250842
Variant Present in the following documents:
  • Main text
  • fneur-11-559327.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GAA: S265N
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomson, Kate L KL; Ormondroyd, Elizabeth E; Harper, Andrew R AR; Dent, Tim T; McGuire, Karen K; Baksi, John J; Blair, Edward E; Brennan, Paul P; Buchan, Rachel R; Bueser, Teofila T; Campbell, Carolyn C; Carr-White, Gerald G; Cook, Stuart S; Daniels, Matthew M; Deevi, Sri V V SVV; Goodship, Judith J; Hayesmoore, Jesse B G JBG; Henderson, Alex A; Lamb, Teresa T; Prasad, Sanjay S; Rayner-Matthews, Paula P; Robert, Leema L; Sneddon, Linda L; Stark, Hannah H; Walsh, Roddy R; Ware, James S JS; Farrall, Martin M; Watkins, Hugh C HC; ,
Publication Date: 2019-07

Variant appearance in text: GAA: 794G>A; Ser265Asn
PubMed Link: 30531895
Variant Present in the following documents:
  • 41436_2018_375_MOESM1_ESM.xlsx, sheet 14
View BVdb publication page



GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Human Mutation
Lemos, Manuel C MC; Thakker, Rajesh V RV
Publication Date: 2015-01

Variant appearance in text: GAA: 794G>A
PubMed Link: 25219572
Variant Present in the following documents:
  • humu0036-0011-sd1.pdf
View BVdb publication page



Fragrant dioxane derivatives identify beta1-subunit-containing GABAA receptors.

The Journal Of Biological Chemistry
Sergeeva, Olga A OA; Kletke, Olaf O; Kragler, Andrea A; Poppek, Anja A; Fleischer, Wiebke W; Schubring, Stephan R SR; Görg, Boris B; Haas, Helmut L HL; Zhu, Xin-Ran XR; Lübbert, Hermann H; Gisselmann, Günter G; Hatt, Hanns H
Publication Date: 2010-07-30

Variant appearance in text: GAA: S265N
PubMed Link: 20511229
Variant Present in the following documents:
  • Main text
View BVdb publication page