NF1 c.1251C>G ;(p.I417M)

Variant ID: 17-29528494-C-G

NM_001042492.2(NF1):c.1251C>G;(p.I417M)

This variant was identified in 2 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: I417M
PubMed Link: 32142667
Variant Present in the following documents:
  • Main text
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: NF1: I417M
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
  • 41467_2018_5914_MOESM1_ESM.pdf
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 2
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
View BVdb publication page