GAA c.316_318delinsTGG ;(p.R106W)

Variant ID: 17-78078701-CGC-TGG

NM_000152.3(GAA):c.316_318delinsTGG;(p.R106W)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Incorporation of sensing modalities into de novo designed fluorescence-activating proteins.

Nature Communications
Klima, Jason C JC; Doyle, Lindsey A LA; Lee, Justin Daho JD; Rappleye, Michael M; Gagnon, Lauren A LA; Lee, Min Yen MY; Barros, Emilia P EP; Vorobieva, Anastassia A AA; Dou, Jiayi J; Bremner, Samantha S; Quon, Jacob S JS; Chow, Cameron M CM; Carter, Lauren L; Mack, David L DL; Amaro, Rommie E RE; Vaughan, Joshua C JC; Berndt, Andre A; Stoddard, Barry L BL; Baker, David D
Publication Date: 2021-02-08

Variant appearance in text: GAA: R106W
PubMed Link: 33558528
Variant Present in the following documents:
  • 41467_2020_18911_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GAA: R106W
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome.

Jimd Reports
Halbach, Nicky S J NS; Smeets, Eric E J EE; Bierau, Jörgen J; Keularts, Irene M L W IM; Plasqui, Guy G; Julu, Peter O O PO; Engerström, Ingegerd Witt IW; Bakker, Jaap A JA; Curfs, Leopold M G LM
Publication Date: 2012

Variant appearance in text: GAA: R106W
PubMed Link: 23430883
Variant Present in the following documents:
  • Main text
View BVdb publication page



A study of the treatment of Rett syndrome with folate and betaine.

Journal Of Child Neurology
Glaze, Daniel G DG; Percy, Alan K AK; Motil, Kathleen J KJ; Lane, Jane B JB; Isaacs, Janet S JS; Schultz, Rebecca J RJ; Barrish, Judy O JO; Neul, Jeffrey L JL; O'Brien, William E WE; Smith, E O'Brian EO
Publication Date: 2009-05

Variant appearance in text: GAA: R106W
PubMed Link: 19225139
Variant Present in the following documents:
  • Main text
View BVdb publication page