RUNX2 c.489T>G ;(p.N163K)

Variant ID: 6-45399665-T-G

NM_001024630.3(RUNX2):c.489T>G;(p.N163K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: RUNX2: 489T>G; N163K
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Orphanet Journal Of Rare Diseases
Kamil, Gilyazetdinov G; Yoon, Ju Young JY; Yoo, Sukdong S; Cheon, Chong Kun CK
Publication Date: 2021-07-03

Variant appearance in text: RUNX2: 489T>G
PubMed Link: 34217350
Variant Present in the following documents:
  • 13023_2021_Article_1937.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: RUNX2: N163K
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page