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NF1 c.3082G>C ;(p.D1028H)
Variant ID: 17-29557369-G-C
NM_001042492.2(
NF1
):c.3082G>C;(p.D1028H)
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:
Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.
Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02
Variant appearance in text: NF1: D1028H
PubMed Link:
36862804
Variant Present in the following documents:
cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 10
View BVdb publication page
Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.
Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04
Variant appearance in text: NF1: 3082G>C; D1028H
PubMed Link:
33397889
Variant Present in the following documents:
41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
Clinical Implications of Noncoding Indels in the Surfactant-Encoding Genes in Lung Cancer.
Cancers
Nakagomi, Takahiro T; Hirotsu, Yosuke Y; Goto, Taichiro T; Shikata, Daichi D; Yokoyama, Yujiro Y; Higuchi, Rumi R; Otake, Sotaro S; Amemiya, Kenji K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2019-04-17
Variant appearance in text: NF1: Asp1028His
PubMed Link:
30999697
Variant Present in the following documents:
cancers-11-00552.pdf
View BVdb publication page
Mutational analysis of multiple lung cancers: Discrimination between primary and metastatic lung cancers by genomic profile.
Oncotarget
Goto, Taichiro T; Hirotsu, Yosuke Y; Mochizuki, Hitoshi H; Nakagomi, Takahiro T; Shikata, Daichi D; Yokoyama, Yujiro Y; Oyama, Toshio T; Amemiya, Kenji K; Okimoto, Kenichiro K; Omata, Masao M
Publication Date: 2017-05-09
Variant appearance in text: NF1: Asp1028His
PubMed Link:
28415711
Variant Present in the following documents:
Main text
oncotarget-08-31133.pdf
View BVdb publication page