NF1 c.2198C>T ;(p.P733L)

Variant ID: 17-29553649-C-T

NM_001042492.2(NF1):c.2198C>T;(p.P733L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: NF1: P733L
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Neurofibroma involving obturator nerve mimicking an adnexal mass: a rare case report and PRISMA-driven systematic review.

Journal Of Ovarian Research
Chao, Wei-Ting WT; Liu, Chia-Hao CH; Chen, Yi-Jen YJ; Wu, Hua-Hsi HH; Chuang, Chi-Mu CM; Wang, Peng-Hui PH
Publication Date: 2018-02-09

Variant appearance in text: NF1: P733L
PubMed Link: 29426349
Variant Present in the following documents:
  • Main text
  • 13048_2018_Article_386.pdf
View BVdb publication page