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NF1 c.5083C>T ;(p.R1695W)
Variant ID: 17-29653085-C-T
NM_001042492.2(
NF1
):c.5083C>T;(p.R1695W)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022
Variant appearance in text: NF1: R1695W
PubMed Link:
36072793
Variant Present in the following documents:
Table_3.xlsx, sheet 1
View BVdb publication page
Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.
Frontiers In Oncology
Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L
Publication Date: 2021
Variant appearance in text: NF1: 5083C>T; R1695W
PubMed Link:
34858840
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01
Variant appearance in text: NF1: 5083C>T; R1695W
PubMed Link:
30709382
Variant Present in the following documents:
12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Protein domain-level landscape of cancer-type-specific somatic mutations.
Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03
Variant appearance in text: NF1: R1695W
PubMed Link:
25794154
Variant Present in the following documents:
pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page