NF1 c.4207G>A ;(p.G1403S)

Variant ID: 17-29585395-G-A

NM_001042492.2(NF1):c.4207G>A;(p.G1403S)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: NF1: G1403S
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: NF1: G1403S
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: rs138227618
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Immunogenomic profiling determines responses to combined PARP and PD-1 inhibition in ovarian cancer.

Nature Communications
Färkkilä, Anniina A; Gulhan, Doga C DC; Casado, Julia J; Jacobson, Connor A CA; Nguyen, Huy H; Kochupurakkal, Bose B; Maliga, Zoltan Z; Yapp, Clarence C; Chen, Yu-An YA; Schapiro, Denis D; Zhou, Yinghui Y; Graham, Julie R JR; Dezube, Bruce J BJ; Munster, Pamela P; Santagata, Sandro S; Garcia, Elizabeth E; Rodig, Scott S; Lako, Ana A; Chowdhury, Dipanjan D; Shapiro, Geoffrey I GI; Matulonis, Ursula A UA; Park, Peter J PJ; Hautaniemi, Sampsa S; Sorger, Peter K PK; Swisher, Elizabeth M EM; D'Andrea, Alan D AD; Konstantinopoulos, Panagiotis A PA
Publication Date: 2020-03-19

Variant appearance in text: NF1: 4207G>A
PubMed Link: 32193378
Variant Present in the following documents:
  • 41467_2020_15315_MOESM1_ESM.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: 4207G>A; G1403S
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: NF1: 4207G>A; Gly1403Ser; rs138227618
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
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: rs138227618
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases.

Diagnostic Pathology
Ding, Ying Y; Wang, Cong C; Li, Xuejie X; Jiang, Yangyang Y; Mei, Ping P; Huang, Wenbin W; Song, Guoxin G; Wang, Jinsong J; Ping, Guoqiang G; Hu, Ran R; Miao, Chen C; He, Xiao X; Chen, Gang G; Li, Hai H; Zhu, Yan Y; Zhang, Zhihong Z
Publication Date: 2018-08-16

Variant appearance in text: NF1: G1403S
PubMed Link: 30111351
Variant Present in the following documents:
  • Main text
  • 13000_2018_Article_732.pdf
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: NF1: G1403S; rs138227618
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: NF1: 4207G>A; Gly1403Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page