NF1 c.466C>G ;(p.R156G)

Variant ID: 17-29490381-C-G

NM_001042492.2(NF1):c.466C>G;(p.R156G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: NF1: Arg156Gly
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5
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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10

Variant appearance in text: rs755890242
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Pharmacokinetic, pharmacodynamic and biomarker evaluation of transforming growth factor-β receptor I kinase inhibitor, galunisertib, in phase 1 study in patients with advanced cancer.

Investigational New Drugs
Rodón, Jordi J; Carducci, Michael M; Sepulveda-Sánchez, Juan M JM; Azaro, Analía A; Calvo, Emiliano E; Seoane, Joan J; Braña, Irene I; Sicart, Elisabet E; Gueorguieva, Ivelina I; Cleverly, Ann A; Pillay, N Sokalingum NS; Desaiah, Durisala D; Estrem, Shawn T ST; Paz-Ares, Luis L; Holdhoff, Matthias M; Blakeley, Jaishri J; Lahn, Michael M MM; Baselga, Jose J
Publication Date: 2015-04

Variant appearance in text: NF1: R156G
PubMed Link: 25529192
Variant Present in the following documents:
  • Main text
View BVdb publication page