NF1 c.3395G>A ;(p.R1132H)

Variant ID: 17-29559798-G-A

NM_001042492.2(NF1):c.3395G>A;(p.R1132H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: NF1: 3395G>A
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
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: 3395G>A; R1132H
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A comparative study of curated contents by knowledge-based curation system in cancer clinical sequencing.

Scientific Reports
Sakai, Kazuko K; Takeda, Masayuki M; Shimizu, Shigeki S; Takahama, Takayuki T; Yoshida, Takeshi T; Watanabe, Satomi S; Iwasa, Tsutomu T; Yonesaka, Kimio K; Suzuki, Shinichiro S; Hayashi, Hidetoshi H; Kawakami, Hisato H; Nonagase, Yoshikane Y; Tanaka, Kaoru K; Tsurutani, Junji J; Saigoh, Kazumasa K; Ito, Akihiko A; Mitsudomi, Tetsuya T; Nakagawa, Kazuhiko K; Nishio, Kazuto K
Publication Date: 2019-08-05

Variant appearance in text: NF1: Arg1132His
PubMed Link: 31383922
Variant Present in the following documents:
  • 41598_2019_47673_MOESM1_ESM.pdf
View BVdb publication page



Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis.

Molecular Cancer Therapeutics
Janku, Filip F; Diamond, Eli L EL; Goodman, Aaron M AM; Raghavan, Vaijayanthi Kandadai VK; Barnes, Tamara G TG; Kato, Shumei S; Abdel-Wahab, Omar O; Durham, Benjamin H BH; Meric-Bernstam, Funda F; Kurzrock, Razelle R
Publication Date: 2019-06

Variant appearance in text: NF1: R1132H
PubMed Link: 31015311
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10

Variant appearance in text: rs778920556
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page