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NR0B2 c.618G>A ;(p.W206*)
Variant ID: 1-27238492-C-T
NM_021969.2(
NR0B2
):c.618G>A;(p.W206*)
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:
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05
Variant appearance in text: NR0B2: 618G>A; W206*
PubMed Link:
32371905
Variant Present in the following documents:
41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09
Variant appearance in text: NR0B2: 618G>A; Trp206*; rs766293590
PubMed Link:
32355288
Variant Present in the following documents:
41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
Role of nuclear receptor SHP in metabolism and cancer.
Biochimica Et Biophysica Acta
Zhang, Yuxia Y; Hagedorn, Curt H CH; Wang, Li L
Publication Date: 2011-08
Variant appearance in text: SHP: 618G>A
PubMed Link:
20970497
Variant Present in the following documents:
Main text
View BVdb publication page
Novel polymorphisms of nuclear receptor SHP associated with functional and structural changes.
The Journal Of Biological Chemistry
Zhou, Taofeng T; Zhang, Yuxia Y; Macchiarulo, Antonio A; Yang, Zhihong Z; Cellanetti, Marco M; Coto, Eliecer E; Xu, Pingyi P; Pellicciari, Roberto R; Wang, Li L
Publication Date: 2010-08-06
Variant appearance in text: SHP: W206X
PubMed Link:
20516075
Variant Present in the following documents:
Main text
View BVdb publication page