NF1 c.6343C>T ;(p.P2115S)

Variant ID: 17-29663848-C-T

NM_001042492.2(NF1):c.6343C>T;(p.P2115S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology
Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM
Publication Date: 2020-10

Variant appearance in text: NF1: 6343C>T; P2115S
PubMed Link: 32666581
Variant Present in the following documents:
  • Main text
  • PATH-252-151.pdf
  • PATH-252-151-s001.xlsx, sheet 3
View BVdb publication page



Clonal replacement of tumor-specific T cells following PD-1 blockade.

Nature Medicine
Yost, Kathryn E KE; Satpathy, Ansuman T AT; Wells, Daniel K DK; Qi, Yanyan Y; Wang, Chunlin C; Kageyama, Robin R; McNamara, Katherine L KL; Granja, Jeffrey M JM; Sarin, Kavita Y KY; Brown, Ryanne A RA; Gupta, Rohit K RK; Curtis, Christina C; Bucktrout, Samantha L SL; Davis, Mark M MM; Chang, Anne Lynn S ALS; Chang, Howard Y HY
Publication Date: 2019-08

Variant appearance in text: NF1: 6343C>T; P2115S
PubMed Link: 31359002
Variant Present in the following documents:
  • NIHMS1531727-supplement-2.xlsx, sheet 2
View BVdb publication page