NF1 c.4331A>G ;(p.K1444R)

Variant ID: 17-29585519-A-G

NM_001042492.2(NF1):c.4331A>G;(p.K1444R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Neurofibromin Is an Estrogen Receptor-α Transcriptional Co-repressor in Breast Cancer.

Cancer Cell
Zheng, Ze-Yi ZY; Anurag, Meenakshi M; Lei, Jonathan T JT; Cao, Jin J; Singh, Purba P; Peng, Jianheng J; Kennedy, Hilda H; Nguyen, Nhu-Chau NC; Chen, Yue Y; Lavere, Philip P; Li, Jing J; Du, Xin-Hui XH; Cakar, Burcu B; Song, Wei W; Kim, Beom-Jun BJ; Shi, Jiejun J; Seker, Sinem S; Chan, Doug W DW; Zhao, Guo-Qiang GQ; Chen, Xi X; Banks, Kimberly C KC; Lanman, Richard B RB; Shafaee, Maryam Nemati MN; Zhang, Xiang H-F XH; Vasaikar, Suhas S; Zhang, Bing B; Hilsenbeck, Susan G SG; Li, Wei W; Foulds, Charles E CE; Ellis, Matthew J MJ; Chang, Eric C EC
Publication Date: 2020-03-16

Variant appearance in text: NF1: K1444R
PubMed Link: 32142667
Variant Present in the following documents:
  • Main text
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: 4331A>G; K1444R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: NF1: K1444R; rs199474781
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology
Kiel, Christina C; Serrano, Luis L
Publication Date: 2014-05-06

Variant appearance in text: NF1: K1444R
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: NF1: K1444R
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page