GAA c.855C>G ;(p.P285=)

Variant ID: 17-78081518-C-G

NM_000152.3(GAA):c.855C>G;(p.P285=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: Pro285Pro
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Stim1 Polymorphism Disrupts Immune Signaling and Creates Renal Injury in Hypertension.

Journal Of The American Heart Association
Dhande, Isha S IS; Zhu, Yaming Y; Kneedler, Sterling C SC; Joshi, Aniket S AS; Hicks, M John MJ; Wenderfer, Scott E SE; Braun, Michael C MC; Doris, Peter A PA
Publication Date: 2020-03-03

Variant appearance in text: GAA: P285P
PubMed Link: 32075490
Variant Present in the following documents:
  • JAH3-9-e014142-s001.xlsx, sheet 1
View BVdb publication page



Combining genetic crosses and pool targeted DNA-seq for untangling genomic variations associated with resistance to multiple insecticides in the mosquito Aedes aegypti.

Evolutionary Applications
Cattel, Julien J; Faucon, Frédéric F; Le Péron, Bastien B; Sherpa, Stéphanie S; Monchal, Marie M; Grillet, Lucie L; Gaude, Thierry T; Laporte, Frederic F; Dusfour, Isabelle I; Reynaud, Stéphane S; David, Jean-Philippe JP
Publication Date: 2020-02

Variant appearance in text: GAA: Pro285Pro
PubMed Link: 31993078
Variant Present in the following documents:
  • EVA-13-303-s006.xlsx, sheet 1
View BVdb publication page



Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Orphanet Journal Of Rare Diseases
Johnson, Katherine K; Töpf, Ana A; Bertoli, Marta M; Phillips, Lauren L; Claeys, Kristl G KG; Stojanovic, Vidosava Rakocevic VR; Perić, Stojan S; Hahn, Andreas A; Maddison, Paul P; Akay, Ela E; Bastian, Alexandra E AE; Łusakowska, Anna A; Kostera-Pruszczyk, Anna A; Lek, Monkol M; Xu, Liwen L; MacArthur, Daniel G DG; Straub, Volker V
Publication Date: 2017-11-17

Variant appearance in text: GAA: 855C>G
PubMed Link: 29149851
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_722.pdf
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: GAA: P285P
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 22
View BVdb publication page