EZH2 c.247-80G>A

Variant ID: 7-148529922-C-T

NM_004456.4(EZH2):c.247-80G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: EZH2: 247-80G>A; rs17552167
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs17552167
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course.

Journal Of Neuroinflammation
Gil-Varea, Elia E; Urcelay, Elena E; Vilariño-Güell, Carles C; Costa, Carme C; Midaglia, Luciana L; Matesanz, Fuencisla F; Rodríguez-Antigüedad, Alfredo A; Oksenberg, Jorge J; Espino-Paisan, Laura L; Dessa Sadovnick, A A; Saiz, Albert A; Villar, Luisa M LM; García-Merino, Juan Antonio JA; Ramió-Torrentà, Lluís L; Triviño, Juan Carlos JC; Quintana, Ester E; Robles, René R; Sánchez-López, Antonio A; Arroyo, Rafael R; Alvarez-Cermeño, Jose C JC; Vidal-Jordana, Angela A; Malhotra, Sunny S; Fissolo, Nicolas N; Montalban, Xavier X; Comabella, Manuel M
Publication Date: 2018-09-14

Variant appearance in text: rs17552167
PubMed Link: 30217166
Variant Present in the following documents:
  • Main text
  • 12974_2018_Article_1307.pdf
View BVdb publication page