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.




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