NF1 c.1997C>T ;(p.S666F)

Variant ID: 17-29552264-C-T

NM_001042492.2(NF1):c.1997C>T;(p.S666F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: NF1: 1997C>T; S666F
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



NF1 Mutations Are Common in Desmoplastic Melanoma.

The American Journal Of Surgical Pathology
Wiesner, Thomas T; Kiuru, Maija M; Scott, Sasinya N SN; Arcila, Maria M; Halpern, Allan C AC; Hollmann, Travis T; Berger, Michael F MF; Busam, Klaus J KJ
Publication Date: 2015-10

Variant appearance in text: NF1: S666F
PubMed Link: 26076063
Variant Present in the following documents:
  • Main text
View BVdb publication page