ARID1A c.1778C>T ;(p.S593F)

Variant ID: 1-27058070-C-T

NM_006015.4(ARID1A):c.1778C>T;(p.S593F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: ARID1A: 1778C>T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: ARID1A: 1778C>T; Ser593Phe
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Circulating tumor DNA predicts neoadjuvant immunotherapy efficacy and recurrence-free survival in surgical non-small cell lung cancer patients.

Translational Lung Cancer Research
Yue, Dongsheng D; Liu, Weiran W; Chen, Chen C; Zhang, Tao T; Ma, Yuchen Y; Cui, Longgang L; Gu, Yajun Y; Bei, Ting T; Zhao, Xiaochen X; Zhang, Bei B; Bai, Yuezong Y; Romero, Atocha A; Xu-Welliver, Meng M; Wang, Changli C; Zhang, Zhenfa Z; Zhang, Bin B
Publication Date: 2022-02

Variant appearance in text: ARID1A: S593F
PubMed Link: 35280315
Variant Present in the following documents:
  • tlcr-11-02-263-supplementary.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: ARID1A: 1778C>T; S593F
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.

Molecular Oncology
Van Bockstal, Mieke R MR; Agahozo, Marie Colombe MC; van Marion, Ronald R; Atmodimedjo, Peggy N PN; Sleddens, Hein F B M HFBM; Dinjens, Winand N M WNM; Visser, Lindy L LL; Lips, Esther H EH; Wesseling, Jelle J; van Deurzen, Carolien H M CHM
Publication Date: 2020-04

Variant appearance in text: ARID1A: 1778C>T; S593F
PubMed Link: 32058674
Variant Present in the following documents:
  • Main text
  • MOL2-14-671.pdf
  • MOL2-14-671-s006.xlsx, sheet 1
View BVdb publication page