NF1 c.4312G>A ;(p.G1438S)

Variant ID: 17-29585500-G-A

NM_001042492.2(NF1):c.4312G>A;(p.G1438S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids
Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S
Publication Date: 2021-12-03

Variant appearance in text: NF1: 4312G>A; G1438S
PubMed Link: 34513290
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.

Molecular Oncology
Van Bockstal, Mieke R MR; Agahozo, Marie Colombe MC; van Marion, Ronald R; Atmodimedjo, Peggy N PN; Sleddens, Hein F B M HFBM; Dinjens, Winand N M WNM; Visser, Lindy L LL; Lips, Esther H EH; Wesseling, Jelle J; van Deurzen, Carolien H M CHM
Publication Date: 2020-04

Variant appearance in text: NF1: 4312G>A; E1438K
PubMed Link: 32058674
Variant Present in the following documents:
  • MOL2-14-671-s006.xlsx, sheet 1
View BVdb publication page



Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Scientific Reports
Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Zimbru, Cristian G CG; Tutac, Paul P; Arghirescu, Smaranda S; Serban, Margit M; Puiu, Maria M
Publication Date: 2020-01-14

Variant appearance in text: NF1: 4312G>A; Glu1438Lys
PubMed Link: 31937788
Variant Present in the following documents:
  • 41598_2019_57080_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: 4312G>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
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: 4312G>A; G1438S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page