PC c.2092G>A ;(p.G698S)

Variant ID: 11-66618642-C-T

NM_001040716.1(PC):c.2092G>A;(p.G698S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.

Pediatric Investigation
Yang, Yeran Y; Liu, Wei W; Jin, Yaqiong Y; Chen, Min M; Lu, Jie J; Yu, Yongbo Y; Ren, Huimin H; Han, Shujing S; Chu, Ping P; Guo, Yongli Y; Zhang, Jie J; Ni, Xin X
Publication Date: 2021-09

Variant appearance in text: PC: 2092G>A; G698R
PubMed Link: 34589676
Variant Present in the following documents:
  • PED4-5-211.pdf
View BVdb publication page



Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.

Elife
Kellner, Shai S; Abbasi, Abeer A; Carmi, Ido I; Heinrich, Ronit R; Garin-Shkolnik, Tali T; Hershkovitz, Tova T; Giladi, Moshe M; Haitin, Yoni Y; Johannesen, Katrine M KM; Steensbjerre Møller, Rikke R; Berlin, Shai S
Publication Date: 2021-07-02

Variant appearance in text: PC: G698S
PubMed Link: 34212862
Variant Present in the following documents:
  • elife-67555.pdf
View BVdb publication page



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: G698S
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page