ARID1A c.514C>T ;(p.Q172*)

Variant ID: 1-27023408-C-T

NM_006015.4(ARID1A):c.514C>T;(p.Q172*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications
Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G
Publication Date: 2022-07-06

Variant appearance in text: ARID1A: 514C>T; Q172*
PubMed Link: 35794096
Variant Present in the following documents:
  • 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Programmed cell death ligand 1 expression in aggressive pediatric non-Hodgkin lymphomas: frequency, genetic mechanisms, and clinical significance.

Haematologica
Fisher, Kevin E KE; Ferguson, Lizmery S LS; Coffey, Amy M AM; Merritt, Brian Y BY; Curry, Jonathan L JL; Marcogliese, Andrea N AN; Major, Angela M AM; Kamdar, Kala Y KY; Lopez-Terrada, Dolores H DH; Curry, Choladda V CV
Publication Date: 2022-08-01

Variant appearance in text: ARID1A: Q172X
PubMed Link: 35081690
Variant Present in the following documents:
  • 1071880.pdf
View BVdb publication page



Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications
Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW
Publication Date: 2021-01-08

Variant appearance in text: ARID1A: Q172X
PubMed Link: 33420073
Variant Present in the following documents:
  • 41467_2020_20493_MOESM3_ESM.xlsx, sheet 7
View BVdb publication page



Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.

Scientific Reports
Lorca, Víctor V; Rueda, Daniel D; Martín-Morales, Lorena L; Fernández-Aceñero, María Jesús MJ; Grolleman, Judith J; Poves, Carmen C; Llovet, Patricia P; Tapial, Sandra S; García-Barberán, Vanesa V; Sanz, Julián J; Pérez-Segura, Pedro P; de Voer, Richarda M RM; Díaz-Rubio, Eduardo E; de la Hoya, Miguel M; Caldés, Trinidad T; Garre, Pilar P
Publication Date: 2019-07-08

Variant appearance in text: ARID1A: 514C>T; Gln172*
PubMed Link: 31285513
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_46403.pdf
View BVdb publication page



Genomic and proteomic characterization of ARID1A chromatin remodeller in ampullary tumors.

American Journal Of Cancer Research
Nastase, Anca A; Teo, Jin Yao JY; Heng, Hong Lee HL; Ng, Cedric Chuan Young CC; Myint, Swe Swe SS; Rajasegaran, Vikneswari V; Loh, Jia Liang JL; Lee, Ser Yee SY; Ooi, London Lucien LL; Chung, Alexander Yaw Fui AY; Chow, Pierce Kah Hoe PK; Cheow, Peng Chung PC; Wan, Wei Keat WK; Azhar, Rafy R; Khoo, Avery A; Xiu, Sam Xin SX; Alkaff, Syed Muhammad Fahmy SM; Cutcutache, Ioana I; Lim, Jing Quan JQ; Ong, Choon Kiat CK; Herlea, Vlad V; Dima, Simona S; Duda, Dan G DG; Teh, Bin Tean BT; Popescu, Irinel I; Lim, Tony Kiat Hon TK
Publication Date: 2017

Variant appearance in text: ARID1A: 514C>T; Q172X
PubMed Link: 28401006
Variant Present in the following documents:
  • Main text
View BVdb publication page