NF1 c.4058C>T ;(p.S1353F)

Variant ID: 17-29576085-C-T

NM_001042492.2(NF1):c.4058C>T;(p.S1353F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.

Blood Advances
Witte, Hanno M HM; Künstner, Axel A; Hertel, Nadine N; Bernd, Heinz-Wolfram HW; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; von Bubnoff, Nikolas N; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-01-25

Variant appearance in text: NF1: S1353F
PubMed Link: 34714908
Variant Present in the following documents:
  • advancesADV2021005486-suppl6.xlsx, sheet 1
View BVdb publication page



Longitudinal Dynamics of Circulating Tumor Cells and Circulating Tumor DNA for Treatment Monitoring in Metastatic Breast Cancer.

Jco Precision Oncology
Gerratana, Lorenzo L; Davis, Andrew A AA; Zhang, Qiang Q; Basile, Debora D; Rossi, Giovanna G; Strickland, Kimberly K; Franzoni, Alessandra A; Allegri, Lorenzo L; Mu, Zhaomei Z; Zhang, Youbin Y; Flaum, Lisa E LE; Damante, Giuseppe G; Gradishar, William John WJ; Platanias, Leonidas C LC; Behdad, Amir A; Yang, Hushan H; Puglisi, Fabio F; Cristofanilli, Massimo M
Publication Date: 2021-06

Variant appearance in text: NF1: S1353F
PubMed Link: 34136741
Variant Present in the following documents:
  • po-5-943.pdf
View BVdb publication page



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: 4058C>T
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_SourceDataFig1.xlsx, sheet 4
View BVdb publication page