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ARID1A c.2653C>T ;(p.P885S)
Variant ID: 1-27089697-C-T
NM_006015.4(
ARID1A
):c.2653C>T;(p.P885S)
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:
Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators.
Journal Of Molecular Biology
Deák, Gauri G; Cook, Atlanta G AG
Publication Date: 2022-05-15
Variant appearance in text: rs1346454405
PubMed Link:
35257783
Variant Present in the following documents:
mmc3.xlsx, sheet 2
View BVdb publication page
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08
Variant appearance in text: ARID1A: 2653C>T
PubMed Link:
33860439
Variant Present in the following documents:
12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
De novo mutations in folate-related genes associated with common developmental disorders.
Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021
Variant appearance in text: ARID1A: 2653C>T
PubMed Link:
33777337
Variant Present in the following documents:
mmc6.xlsx, sheet 1
View BVdb publication page
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: ARID1A: 2653C>T
PubMed Link:
32371905
Variant Present in the following documents:
41467_2020_16067_MOESM19_ESM.xlsx, sheet 1
View BVdb publication page