NF1 c.5488C>A ;(p.R1830S)

Variant ID: 17-29654736-C-A

NM_001042492.2(NF1):c.5488C>A;(p.R1830S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Adib, Elio E; Klonowska, Katarzyna K; Giannikou, Krinio K; Do, Khanh T KT; Pruitt-Thompson, Solida S; Bhushan, Ketki K; Milstein, Matthew I MI; Hedglin, Jennifer J; Kargus, Katherine E KE; Sholl, Lynette M LM; Tsuji, Junko J; Hyman, David M DM; Sisk, Anne A; Shapiro, Geoffrey I GI; Vargas, Hebert A HA; Harding, James J JJ; Voss, Martin H MH; Iyer, Gopa G; Kwiatkowski, David J DJ
Publication Date: 2021-07-15

Variant appearance in text: NF1: Arg1830Ser
PubMed Link: 33727259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications
Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM
Publication Date: 2020-11-10

Variant appearance in text: NF1: R1830S
PubMed Link: 33173047
Variant Present in the following documents:
  • 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: rs797045139
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page