APC c.1900A>G ;(p.S634G)

Variant ID: 5-112170804-A-G

NM_000038.5(APC):c.1900A>G;(p.S634G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Neuroscience
Horvath, Gabriella A GA; Zhao, Yulin Y; Tarailo-Graovac, Maja M; Boelman, Cyrus C; Gill, Harinder H; Shyr, Casper C; Lee, James J; Blydt-Hansen, Ingrid I; Drögemöller, Britt I BI; Moreland, Jacqueline J; Ross, Colin J CJ; Wasserman, Wyeth W WW; Masotti, Andrea A; Slesinger, Paul A PA; van Karnebeek, Clara D M CDM
Publication Date: 2018-08-01

Variant appearance in text: APC: 1900A>G
PubMed Link: 29852244
Variant Present in the following documents:
  • Main text
View BVdb publication page



CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Gut
Manic, Gwenola G; Signore, Michele M; Sistigu, Antonella A; Russo, Giorgio G; Corradi, Francesca F; Siteni, Silvia S; Musella, Martina M; Vitale, Sara S; De Angelis, Maria Laura ML; Pallocca, Matteo M; Amoreo, Carla Azzurra CA; Sperati, Francesca F; Di Franco, Simone S; Barresi, Sabina S; Policicchio, Eleonora E; De Luca, Gabriele G; De Nicola, Francesca F; Mottolese, Marcella M; Zeuner, Ann A; Fanciulli, Maurizio M; Stassi, Giorgio G; Maugeri-Saccà, Marcello M; Baiocchi, Marta M; Tartaglia, Marco M; Vitale, Ilio I; De Maria, Ruggero R
Publication Date: 2018-05

Variant appearance in text: APC: 1900A>G; Ser634Gly
PubMed Link: 28389531
Variant Present in the following documents:
  • gutjnl-2016-312623supp002.pdf
View BVdb publication page