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NF1 c.4465A>G ;(p.S1489G)
Variant ID: 17-29587421-A-G
NM_001042492.2(
NF1
):c.4465A>G;(p.S1489G)
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:
Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study.
Current Issues In Molecular Biology
Togi, Sumihito S; Ura, Hiroki H; Niida, Yo Y
Publication Date: 2021-07-23
Variant appearance in text: rs199474743
PubMed Link:
34449562
Variant Present in the following documents:
cimb-43-00057.pdf
View BVdb publication page
Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.
Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07
Variant appearance in text: NF1: 4465A>G; Ser1489Gly
PubMed Link:
32832622
Variant Present in the following documents:
aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page
Establishment and characterization of patient-derived cancer models of malignant peripheral nerve sheath tumors.
Cancer Cell International
Oyama, Rieko R; Kito, Fusako F; Takahashi, Mami M; Hattori, Emi E; Noguchi, Rei R; Takai, Yoko Y; Sakumoto, Marimu M; Qiao, Zhiwei Z; Toki, Shunichi S; Sugawara, Masato M; Tanzawa, Yoshikazu Y; Kobayashi, Eisuke E; Nakatani, Fumihiko F; Iwata, Shintaro S; Yoshida, Akihiko A; Kawai, Akira A; Kondo, Tadashi T
Publication Date: 2020
Variant appearance in text: NF1: S1489G; rs199474743
PubMed Link:
32099531
Variant Present in the following documents:
12935_2020_1128_MOESM3_ESM.xlsx, sheet 1
12935_2020_1128_MOESM4_ESM.xlsx, sheet 1
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: S1489G; rs199474743
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, 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: S1489G
PubMed Link:
24803665
Variant Present in the following documents:
MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page