NF1 c.1870T>G ;(p.F624V)

Variant ID: 17-29552137-T-G

NM_001042492.2(NF1):c.1870T>G;(p.F624V)

This variant was identified in 3 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe.

Cancers
Carbó-Bagué, Anna A; Rubió-Casadevall, Jordi J; Puigdemont, Montserrat M; Sanvisens, Arantza A; Oliveras, Glòria G; Coll, Mònica M; Del Olmo, Bernat B; Perez-Bueno, Ferran F; Marcos-Gragera, Rafael R
Publication Date: 2022-02-03

Variant appearance in text: NF1: F624V
PubMed Link: 35159047
Variant Present in the following documents:
  • Main text
  • cancers-14-00780.pdf
View BVdb publication page


Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe.

Cancers
Carbó-Bagué, Anna A; Rubió-Casadevall, Jordi J; Puigdemont, Montserrat M; Sanvisens, Arantza A; Oliveras, Glòria G; Coll, Mònica M; Del Olmo, Bernat B; Perez-Bueno, Ferran F; Marcos-Gragera, Rafael R
Publication Date: 2022-02-03

Variant appearance in text: NF1: F624V
PubMed Link: 35159047
Variant Present in the following documents:
  • Main text
  • cancers-14-00780.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: rs765060733
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page


Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: Phe624Val
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page