PC c.1162C>T ;(p.Q388*)

Variant ID: 11-66633681-G-A

NM_001040716.1(PC):c.1162C>T;(p.Q388*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
Publication Date: 2017

Variant appearance in text: PC: 1162C>T
PubMed Link: 32214494
Variant Present in the following documents:
  • 112_2017_Article_301.pdf
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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: PC: Q388X
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

American Journal Of Human Genetics
Hamdan, Fadi F FF; Gauthier, Julie J; Araki, Yoichi Y; Lin, Da-Ting DT; Yoshizawa, Yuhki Y; Higashi, Kyohei K; Park, A-Reum AR; Spiegelman, Dan D; Dobrzeniecka, Sylvia S; Piton, Amélie A; Tomitori, Hideyuki H; Daoud, Hussein H; Massicotte, Christine C; Henrion, Edouard E; Diallo, Ousmane O; , ; Shekarabi, Masoud M; Marineau, Claude C; Shevell, Michael M; Maranda, Bruno B; Mitchell, Grant G; Nadeau, Amélie A; D'Anjou, Guy G; Vanasse, Michel M; Srour, Myriam M; Lafrenière, Ronald G RG; Drapeau, Pierre P; Lacaille, Jean Claude JC; Kim, Eunjoon E; Lee, Jae-Ran JR; Igarashi, Kazuei K; Huganir, Richard L RL; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2011-03-11

Variant appearance in text: PC: 1162C>T
PubMed Link: 21376300
Variant Present in the following documents:
  • Main text
View BVdb publication page