ARID1A c.3605G>A ;(p.R1202Q)

Variant ID: 1-27099368-G-A

NM_006015.4(ARID1A):c.3605G>A;(p.R1202Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: ARID1A: 3605G>A; Arg1202Gln
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



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: rs1424078801
PubMed Link: 35257783
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ARID1A: R1202Q
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: ARID1A: 3605G>A; R1202Q
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Clinical and genetic analysis of melanomas arising in acral sites.

European Journal Of Cancer (Oxford, England : 1990)
Zaremba, Anne A; Murali, Rajmohan R; Jansen, Philipp P; Möller, Inga I; Sucker, Antje A; Paschen, Annette A; Zimmer, Lisa L; Livingstone, Elisabeth E; Brinker, Titus J TJ; Hadaschik, Eva E; Franklin, Cindy C; Roesch, Alexander A; Ugurel, Selma S; Schadendorf, Dirk D; Griewank, Klaus G KG; Cosgarea, Ioana I
Publication Date: 2019-09

Variant appearance in text: ARID1A: R1202Q
PubMed Link: 31419753
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.

Oncotarget
Cosgarea, Ioana I; Ugurel, Selma S; Sucker, Antje A; Livingstone, Elisabeth E; Zimmer, Lisa L; Ziemer, Mirjana M; Utikal, Jochen J; Mohr, Peter P; Pfeiffer, Christiane C; Pföhler, Claudia C; Hillen, Uwe U; Horn, Susanne S; Schadendorf, Dirk D; Griewank, Klaus G KG; Roesch, Alexander A
Publication Date: 2017-06-20

Variant appearance in text: ARID1A: R1202Q
PubMed Link: 28380455
Variant Present in the following documents:
  • Main text
  • oncotarget-08-40683.pdf
View BVdb publication page



The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis.

Nature Genetics
Gibson, William J WJ; Hoivik, Erling A EA; Halle, Mari K MK; Taylor-Weiner, Amaro A; Cherniack, Andrew D AD; Berg, Anna A; Holst, Frederik F; Zack, Travis I TI; Werner, Henrica M J HM; Staby, Kjersti M KM; Rosenberg, Mara M; Stefansson, Ingunn M IM; Kusonmano, Kanthida K; Chevalier, Aaron A; Mauland, Karen K KK; Trovik, Jone J; Krakstad, Camilla C; Giannakis, Marios M; Hodis, Eran E; Woie, Kathrine K; Bjorge, Line L; Vintermyr, Olav K OK; Wala, Jeremiah A JA; Lawrence, Michael S MS; Getz, Gad G; Carter, Scott L SL; Beroukhim, Rameen R; Salvesen, Helga B HB
Publication Date: 2016-08

Variant appearance in text: ARID1A: R1202Q
PubMed Link: 27348297
Variant Present in the following documents:
  • NIHMS791814-supplement-1.pdf
View BVdb publication page



Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.

Journal Of Neuro-Oncology
van de Nes, Johannes J; Gessi, Marco M; Sucker, Antje A; Möller, Inga I; Stiller, Mathias M; Horn, Susanne S; Scholz, Simone L SL; Pischler, Carina C; Stadtler, Nadine N; Schilling, Bastian B; Zimmer, Lisa L; Hillen, Uwe U; Scolyer, Richard A RA; Buckland, Michael E ME; Lauriola, Libero L; Pietsch, Torsten T; Waha, Andreas A; Schadendorf, Dirk D; Murali, Rajmohan R; Griewank, Klaus G KG
Publication Date: 2016-05

Variant appearance in text: ARID1A: R1202Q
PubMed Link: 26744134
Variant Present in the following documents:
  • Main text
View BVdb publication page