PC c.139G>A ;(p.E47K)

Variant ID: 11-66639340-C-T

NM_001040716.1(PC):c.139G>A;(p.E47K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: PC: E47K
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Characterization of the membrane interactions of phospholipase Cγ reveals key features of the active enzyme.

Science Advances
Le Huray, Kyle I P KIP; Bunney, Tom D TD; Pinotsis, Nikos N; Kalli, Antreas C AC; Katan, Matilda M
Publication Date: 2022-06-24

Variant appearance in text: PC: E47K
PubMed Link: 35749497
Variant Present in the following documents:
  • Main text
  • sciadv.abp9688.pdf
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: PC: 139G>A
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.

Bmc Structural Biology
Leettola, Catherine N CN; Knight, Mary Jane MJ; Cascio, Duilio D; Hoffman, Sigrid S; Bowie, James U JU
Publication Date: 2014-07-07

Variant appearance in text: PC: E47K
PubMed Link: 24998259
Variant Present in the following documents:
  • 1472-6807-14-17.pdf
View BVdb publication page



Complexin activates exocytosis of distinct secretory vesicles controlled by different synaptotagmins.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cao, Peng P; Yang, Xiaofei X; Südhof, Thomas C TC
Publication Date: 2013-01-23

Variant appearance in text: PC: E47K
PubMed Link: 23345244
Variant Present in the following documents:
  • Main text
View BVdb publication page