NF1 c.34_36delinsCAA ;(p.A12Q)

Variant ID: 17-29422361-GCC-CAA

NM_001042492.2(NF1):c.34_36delinsCAA;(p.A12Q)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: NF1: A12Q
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Genetic mutation and biological pathway prediction based on whole slide images in breast carcinoma using deep learning.

Npj Precision Oncology
Qu, Hui H; Zhou, Mu M; Yan, Zhennan Z; Wang, He H; Rustgi, Vinod K VK; Zhang, Shaoting S; Gevaert, Olivier O; Metaxas, Dimitris N DN
Publication Date: 2021-09-23

Variant appearance in text: NF1: A12Q
PubMed Link: 34556802
Variant Present in the following documents:
  • 41698_2021_225_MOESM1_ESM.pdf
View BVdb publication page



Stage-specific protein-domain mutational profile of invasive ductal breast cancer.

Bmc Medical Genomics
Yu, Ting T; Choi, Kwok Pui KP; Chen, Ee Sin ES; Zhang, Louxin L
Publication Date: 2020-10-22

Variant appearance in text: NF1: A12Q
PubMed Link: 33087126
Variant Present in the following documents:
  • 12920_2020_777_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: NF1: A12Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: NF1: A12Q
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page