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NF1 c.4236A>C ;(p.R1412S)
Variant ID: 17-29585424-A-C
NM_001042492.2(
NF1
):c.4236A>C;(p.R1412S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: N/A
PubMed Link:
26659599
Variant Present in the following documents:
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: R1412S
PubMed Link:
24803665
Variant Present in the following documents:
MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Plos One
Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K
Publication Date: 2013
Variant appearance in text: NF1: R1412S
PubMed Link:
24205039
Variant Present in the following documents:
pone.0077945.s001.xls, sheet 11
View BVdb publication page
Predicting the functional impact of protein mutations: application to cancer genomics.
Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01
Variant appearance in text: NF1: R1412S
PubMed Link:
21727090
Variant Present in the following documents:
supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page