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NF1 c.1722C>G ;(p.S574R)
Variant ID: 17-29550462-C-G
NM_001042492.2(
NF1
):c.1722C>G;(p.S574R)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Cancers
Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V
Publication Date: 2019-11-21
Variant appearance in text: NF1: 1722C>G; Ser574Arg
PubMed Link:
31766501
Variant Present in the following documents:
Main text
cancers-11-01838.pdf
View BVdb publication page
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Genes
Stella, Alessandro A; Lastella, Patrizia P; Loconte, Daria Carmela DC; Bukvic, Nenad N; Varvara, Dora D; Patruno, Margherita M; Bagnulo, Rosanna R; Lovaglio, Rosaura R; Bartolomeo, Nicola N; Serio, Gabriella G; Resta, Nicoletta N
Publication Date: 2018-04-17
Variant appearance in text: NF1: 1722C>G; Ser574Arg
PubMed Link:
29673180
Variant Present in the following documents:
Main text
genes-09-00216.pdf
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: NF1: S574R
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: NF1: S574R
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Molecular Systems Biology
Kiel, Christina C; Serrano, Luis L
Publication Date: 2014-05-06
Variant appearance in text: NF1: S574R
PubMed Link:
24803665
Variant Present in the following documents:
MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page