NF1 c.155C>T ;(p.S52F)

Variant ID: 17-29483095-C-T

NM_001042492.2(NF1):c.155C>T;(p.S52F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Conjunctival Melanoma: Update on Genetics, Epigenetics and Targeted Molecular and Immune-Based Therapies.

Clinical Ophthalmology (Auckland, N.Z.)
Gkiala, Anastasia A; Palioura, Sotiria S
Publication Date: 2020

Variant appearance in text: NF1: S52F
PubMed Link: 33116365
Variant Present in the following documents:
  • Main text
  • opth-14-3137.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: NF1: 155C>T; S52F
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NF1 mutations in conjunctival melanoma.

British Journal Of Cancer
Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG
Publication Date: 2018-05

Variant appearance in text: NF1: 155C>T; Ser52Phe
PubMed Link: 29559732
Variant Present in the following documents:
  • Main text
  • 41416_2018_Article_46.pdf
  • 41416_2018_46_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page