NF1 c.2228C>G ;(p.S743C)

Variant ID: 17-29553679-C-G

NM_001042492.2(NF1):c.2228C>G;(p.S743C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: NF1: S743C
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Radiation therapy enhances immunotherapy response in microsatellite stable colorectal and pancreatic adenocarcinoma in a phase II trial.

Nature Cancer
Parikh, Aparna R AR; Szabolcs, Annamaria A; Allen, Jill N JN; Clark, Jeffrey W JW; Wo, Jennifer Y JY; Raabe, Michael M; Thel, Hannah H; Hoyos, David D; Mehta, Arnav A; Arshad, Sanya S; Lieb, David J DJ; Drapek, Lorraine C LC; Blaszkowsky, Lawrence S LS; Giantonio, Bruce J BJ; Weekes, Colin D CD; Zhu, Andrew X AX; Goyal, Lipika L; Nipp, Ryan D RD; Dubois, Jon S JS; Van Seventer, Emily E EE; Foreman, Bronwen E BE; Matlack, Lauren E LE; Ly, Leilana L; Meurer, Jessica A JA; Hacohen, Nir N; Ryan, David P DP; Yeap, Beow Y BY; Corcoran, Ryan B RB; Greenbaum, Benjamin D BD; Ting, David T DT; Hong, Theodore S TS
Publication Date: 2021-11

Variant appearance in text: NF1: S743C
PubMed Link: 35122060
Variant Present in the following documents:
  • NIHMS1740920-supplement-Supplementary_Tables.pdf
View BVdb publication page



IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study.

Plos Medicine
Li, Yunlei Y; Buijs-Gladdines, Jessica G C A M JG; Canté-Barrett, Kirsten K; Stubbs, Andrew P AP; Vroegindeweij, Eric M EM; Smits, Willem K WK; van Marion, Ronald R; Dinjens, Winand N M WN; Horstmann, Martin M; Kuiper, Roland P RP; Buijsman, Rogier C RC; Zaman, Guido J R GJ; van der Spek, Peter J PJ; Pieters, Rob R; Meijerink, Jules P P JP
Publication Date: 2016-12

Variant appearance in text: NF1: S743C
PubMed Link: 27997540
Variant Present in the following documents:
  • pmed.1002200.s012.xlsx, sheet 3
  • pmed.1002200.s015.xlsx, sheet 1
View BVdb publication page