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SYNJ1 c.1535C>T ;(p.A512V)
Variant ID: 21-34045841-G-A
NM_203446.2(
SYNJ1
):c.1535C>T;(p.A512V)
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:
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022
Variant appearance in text: SYNJ1: 1652C>T; A551V
PubMed Link:
36387164
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
Clonal Evolution and Heterogeneity of Osimertinib Acquired Resistance Mechanisms in EGFR Mutant Lung Cancer.
Cell Reports. Medicine
Roper, Nitin N; Brown, Anna-Leigh AL; Wei, Jun S JS; Pack, Svetlana S; Trindade, Christopher C; Kim, Chul C; Restifo, Olivia O; Gao, Shaojian S; Sindiri, Sivasish S; Mehrabadi, Farid F; El Meskini, Rajaa R; Ohler, Zoe Weaver ZW; Maity, Tapan K TK; Venugopalan, Abhilash A; Cultraro, Constance M CM; Akoth, Elizabeth E; Padiernos, Emerson E; Chen, Haobin H; Kesarwala, Aparna A; Smart, DeeDee K DK; Nilubol, Naris N; Rajan, Arun A; Piotrowska, Zofia Z; Xi, Liqiang L; Raffeld, Mark M; Panchenko, Anna R AR; Sahinalp, Cenk C; Hewitt, Stephen S; Hoang, Chuong D CD; Khan, Javed J; Guha, Udayan U
Publication Date: 2020-04-21
Variant appearance in text: SYNJ1: A551V
PubMed Link:
32483558
Variant Present in the following documents:
mmc4.xlsx, sheet 1
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: SYNJ1: 1652C>T; Ala551Val; rs115989459
PubMed Link:
32355288
Variant Present in the following documents:
41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.
Movement Disorders : Official Journal Of The Movement Disorder Society
Lin, Chin-Hsien CH; Chen, Pei-Lung PL; Tai, Chun-Hwei CH; Lin, Hang-I HI; Chen, Chih-Shan CS; Chen, Meng-Ling ML; Wu, Ruey-Meei RM
Publication Date: 2019-04
Variant appearance in text: SYNJ1: A551V
PubMed Link:
30788857
Variant Present in the following documents:
Main text
MDS-34-506.pdf
View BVdb publication page
Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.
Oncotarget
Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X
Publication Date: 2017-09-26
Variant appearance in text: SYNJ1: A551V
PubMed Link:
29088863
Variant Present in the following documents:
oncotarget-08-75264-s003.xls, sheet 1
View BVdb publication page