NF1 c.4262C>G ;(p.P1421R)

Variant ID: 17-29585450-C-G

NM_001042492.2(NF1):c.4262C>G;(p.P1421R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor.

Acta Neuropathologica Communications
Lucas, Calixto-Hope G CG; Gupta, Rohit R; Doo, Pamela P; Lee, Julieann C JC; Cadwell, Cathryn R CR; Ramani, Biswarathan B; Hofmann, Jeffrey W JW; Sloan, Emily A EA; Kleinschmidt-DeMasters, Bette K BK; Lee, Han S HS; Wood, Matthew D MD; Grafe, Marjorie M; Born, Donald D; Vogel, Hannes H; Salamat, Shahriar S; Puccetti, Diane D; Scharnhorst, David D; Samuel, David D; Cooney, Tabitha T; Cham, Elaine E; Jin, Lee-Way LW; Khatib, Ziad Z; Maher, Ossama O; Chamyan, Gabriel G; Brathwaite, Carole C; Bannykh, Serguei S; Mueller, Sabine S; Kline, Cassie N CN; Banerjee, Anu A; Reddy, Alyssa A; Taylor, Jennie W JW; Clarke, Jennifer L JL; Oberheim Bush, Nancy Ann NA; Butowski, Nicholas N; Gupta, Nalin N; Auguste, Kurtis I KI; Sun, Peter P PP; Roland, Jarod L JL; Raffel, Corey C; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward E; Hervey-Jumper, Shawn S; Phillips, Joanna J JJ; Pekmezci, Melike M; Bollen, Andrew W AW; Tihan, Tarik T; Chang, Susan S; Berger, Mitchel S MS; Perry, Arie A; Solomon, David A DA
Publication Date: 2020-08-28

Variant appearance in text: NF1: P1421R
PubMed Link: 32859279
Variant Present in the following documents:
  • Main text
  • 40478_2020_1027_MOESM1_ESM.xlsx, sheet 2
  • 40478_2020_Article_1027.pdf
View BVdb publication page



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: rs753997885
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page