KIT c.676G>C ;(p.G226R)

Variant ID: 4-55565852-G-C

NM_000222.2(KIT):c.676G>C;(p.G226R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Kidney cancer PDOXs reveal patient-specific pro-malignant effects of antiangiogenics and its molecular traits.

Embo Molecular Medicine
Moserle, Lidia L; Pons, Roser R; Martínez-Lozano, Mar M; Jiménez-Valerio, Gabriela A GA; Vidal, August A; Suárez, Cristina C; Trilla, Enrique E; Jiménez, José J; de Torres, Inés I; Carles, Joan J; Senserrich, Jordi J; Aguilar, Susana S; Palomero, Luis L; Amadori, Alberto A; Casanovas, Oriol O
Publication Date: 2020-12-07

Variant appearance in text: KIT: 676G>C
PubMed Link: 33151035
Variant Present in the following documents:
  • EMMM-12-e11889-s001.pdf
View BVdb publication page



Melanoma genome sequencing reveals frequent PREX2 mutations.

Nature
Berger, Michael F MF; Hodis, Eran E; Heffernan, Timothy P TP; Deribe, Yonathan Lissanu YL; Lawrence, Michael S MS; Protopopov, Alexei A; Ivanova, Elena E; Watson, Ian R IR; Nickerson, Elizabeth E; Ghosh, Papia P; Zhang, Hailei H; Zeid, Rhamy R; Ren, Xiaojia X; Cibulskis, Kristian K; Sivachenko, Andrey Y AY; Wagle, Nikhil N; Sucker, Antje A; Sougnez, Carrie C; Onofrio, Robert R; Ambrogio, Lauren L; Auclair, Daniel D; Fennell, Timothy T; Carter, Scott L SL; Drier, Yotam Y; Stojanov, Petar P; Singer, Meredith A MA; Voet, Douglas D; Jing, Rui R; Saksena, Gordon G; Barretina, Jordi J; Ramos, Alex H AH; Pugh, Trevor J TJ; Stransky, Nicolas N; Parkin, Melissa M; Winckler, Wendy W; Mahan, Scott S; Ardlie, Kristin K; Baldwin, Jennifer J; Wargo, Jennifer J; Schadendorf, Dirk D; Meyerson, Matthew M; Gabriel, Stacey B SB; Golub, Todd R TR; Wagner, Stephan N SN; Lander, Eric S ES; Getz, Gad G; Chin, Lynda L; Garraway, Levi A LA
Publication Date: 2012-05-09

Variant appearance in text: KIT: G226R
PubMed Link: 22622578
Variant Present in the following documents:
  • NIHMS362881-supplement-3.xlsx, sheet 5
View BVdb publication page