RUNX2 c.772_774delinsTGG ;(p.R258W)

Variant ID: 6-45459764-AGA-TGG

NM_001024630.3(RUNX2):c.772_774delinsTGG;(p.R258W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structural mechanism for NEK7-licensed activation of NLRP3 inflammasome.

Nature
Sharif, Humayun H; Wang, Li L; Wang, Wei Li WL; Magupalli, Venkat Giri VG; Andreeva, Liudmila L; Qiao, Qi Q; Hauenstein, Arthur V AV; Wu, Zhaolong Z; Núñez, Gabriel G; Mao, Youdong Y; Wu, Hao H
Publication Date: 2019-06

Variant appearance in text: CCD: R258W
PubMed Link: 31189953
Variant Present in the following documents:
  • Main text
  • nihms-1529572.pdf
View BVdb publication page



Olaparib is effective in combination with, and as maintenance therapy after, first-line endocrine therapy in prostate cancer cells.

Molecular Oncology
Feiersinger, Gertrud E GE; Trattnig, Kristina K; Leitner, Peter D PD; Guggenberger, Fabian F; Oberhuber, Alexander A; Peer, Sarah S; Hermann, Martin M; Skvortsova, Ira I; Vrbkova, Jana J; Bouchal, Jan J; Culig, Zoran Z; Santer, Frédéric R FR
Publication Date: 2018-04

Variant appearance in text: RUNX2: R258W
PubMed Link: 29465803
Variant Present in the following documents:
  • MOL2-12-561-s006.xlsx, sheet 7
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: RUNX2: R258W
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page