NF1 c.1009G>A ;(p.E337K)

Variant ID: 17-29527560-G-A

NM_001042492.2(NF1):c.1009G>A;(p.E337K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A novel anti-melanoma SRC-family kinase inhibitor.

Oncotarget
Halaban, Ruth R; Bacchiocchi, Antonella A; Straub, Robert R; Cao, Jian J; Sznol, Mario M; Narayan, Deepak D; Allam, Ahmed A; Krauthammer, Michael M; Mansour, Tarek S TS
Publication Date: 2019-03-19

Variant appearance in text: NF1: E337K
PubMed Link: 31040916
Variant Present in the following documents:
  • Main text
  • oncotarget-10-2237.pdf
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: rs747241884
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

Nature Genetics
Krauthammer, Michael M; Kong, Yong Y; Bacchiocchi, Antonella A; Evans, Perry P; Pornputtapong, Natapol N; Wu, Cen C; McCusker, James P JP; Ma, Shuangge S; Cheng, Elaine E; Straub, Robert R; Serin, Merdan M; Bosenberg, Marcus M; Ariyan, Stephan S; Narayan, Deepak D; Sznol, Mario M; Kluger, Harriet M HM; Mane, Shrikant S; Schlessinger, Joseph J; Lifton, Richard P RP; Halaban, Ruth R
Publication Date: 2015-09

Variant appearance in text: NF1: Glu337Lys
PubMed Link: 26214590
Variant Present in the following documents:
  • Main text
View BVdb publication page