GAA c.764A>C ;(p.Q255P)

Variant ID: 17-78081427-A-C

NM_000152.3(GAA):c.764A>C;(p.Q255P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


MC38 colorectal tumor cell lines from two different sources display substantial differences in transcriptome, mutanome and neoantigen expression.

Frontiers In Immunology
Schrörs, Barbara B; Hos, Brett J BJ; Yildiz, Ikra G IG; Löwer, Martin M; Lang, Franziska F; Holtsträter, Christoph C; Becker, Julia J; Vormehr, Mathias M; Sahin, Ugur U; Ossendorp, Ferry F; Diken, Mustafa M
Publication Date: 2023

Variant appearance in text: GAA: Q255P
PubMed Link: 36969213
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Publication Date: 2022-03

Variant appearance in text: GAA: 764A>C
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.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: 764A>C; Gln255Pro
PubMed Link: 31993078
Variant Present in the following documents:
  • EVA-13-303-s006.xlsx, sheet 1
View BVdb publication page



Integron integrase binds to bulged hairpin DNA.

Nucleic Acids Research
Johansson, Carolina C; Kamali-Moghaddam, Masood M; Sundström, Lars L
Publication Date: 2004

Variant appearance in text: GAA: Q255P
PubMed Link: 15289577
Variant Present in the following documents:
  • Main text
View BVdb publication page