NF1 c.5186_5187delinsAG ;(p.A1729E)

Variant ID: 17-29653188-CC-AG

NM_001042492.2(NF1):c.5186_5187delinsAG;(p.A1729E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets.

The Journal Of Clinical Investigation
Paul, Matt R MR; Pan, Tien-Chi TC; Pant, Dhruv K DK; Shih, Natalie Nc NN; Chen, Yan Y; Harvey, Kyra L KL; Solomon, Aaron A; Lieberman, David D; Morrissette, Jennifer Jd JJ; Soucier-Ernst, Danielle D; Goodman, Noah G NG; Stavropoulos, S William SW; Maxwell, Kara N KN; Clark, Candace C; Belka, George K GK; Feldman, Michael M; DeMichele, Angela A; Chodosh, Lewis A LA
Publication Date: 2020-08-03

Variant appearance in text: NF1: A1729E
PubMed Link: 32657779
Variant Present in the following documents:
  • Main text
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: Ala1729Glu
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: NF1: A1729E
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

Familial Cancer
Dobbins, Sara E SE; Broderick, Peter P; Chubb, Daniel D; Kinnersley, Ben B; Sherborne, Amy L AL; Houlston, Richard S RS
Publication Date: 2016-10

Variant appearance in text: NF1: Ala1729Glu
PubMed Link: 27356891
Variant Present in the following documents:
  • Main text
  • 10689_2016_Article_9914.pdf
View BVdb publication page