RUNX2 c.263C>T ;(p.A88V)

Variant ID: 6-45390534-C-T

NM_001024630.3(RUNX2):c.263C>T;(p.A88V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine
Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL
Publication Date: 2021-12-03

Variant appearance in text: CCD: A88V
PubMed Link: 34862408
Variant Present in the following documents:
  • 41525_2021_265_MOESM1_ESM.pdf
View BVdb publication page



Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine
Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL
Publication Date: 2021-12-03

Variant appearance in text: CCD: A88V
PubMed Link: 34862408
Variant Present in the following documents:
  • 41525_2021_265_MOESM1_ESM.pdf
View BVdb publication page



Pan-Cancer Analysis of Immune Cell Infiltration Identifies a Prognostic Immune-Cell Characteristic Score (ICCS) in Lung Adenocarcinoma.

Frontiers In Immunology
Zuo, Shuguang S; Wei, Min M; Wang, Shiqun S; Dong, Jie J; Wei, Jiwu J
Publication Date: 2020

Variant appearance in text: RUNX2: A88V
PubMed Link: 32714316
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Structural insights into humanization of anti-tissue factor antibody 10H10.

Mabs
Teplyakov, Alexey A; Obmolova, Galina G; Malia, Thomas J TJ; Raghunathan, Gopalan G; Martinez, Christian C; Fransson, Johan J; Edwards, Wilson W; Connor, Judith J; Husovsky, Matthew M; Beck, Heena H; Chi, Ellen E; Fenton, Sandra S; Zhou, Hong H; Almagro, Juan Carlos JC; Gilliland, Gary L GL
Publication Date: 2018

Variant appearance in text: CCD: Ala88Val
PubMed Link: 29283291
Variant Present in the following documents:
  • Main text
  • kmab-10-02-1412026.pdf
View BVdb publication page



The First Extracellular Domain Plays an Important Role in Unitary Channel Conductance of Cx50 Gap Junction Channels.

Plos One
Tong, Xiaoling X; Aoyama, Hiroshi H; Sudhakar, Swathy S; Chen, Honghong H; Shilton, Brian H BH; Bai, Donglin D
Publication Date: 2015

Variant appearance in text: CCD: A88V
PubMed Link: 26625162
Variant Present in the following documents:
  • pone.0143876.pdf
View BVdb publication page



Extracellular gentamicin reduces the activity of connexin hemichannels and interferes with purinergic Ca(2+) signaling in HeLa cells.

Frontiers In Cellular Neuroscience
Figueroa, Vania A VA; Retamal, Mauricio A MA; Cea, Luis A LA; Salas, José D JD; Vargas, Aníbal A AA; Verdugo, Christian A CA; Jara, Oscar O; Martínez, Agustín D AD; Sáez, Juan C JC
Publication Date: 2014

Variant appearance in text: CCD: A88V
PubMed Link: 25237294
Variant Present in the following documents:
  • fncel-08-00265.pdf
View BVdb publication page



Paracrine signaling through plasma membrane hemichannels.

Biochimica Et Biophysica Acta
Wang, Nan N; De Bock, Marijke M; Decrock, Elke E; Bol, Mélissa M; Gadicherla, Ashish A; Vinken, Mathieu M; Rogiers, Vera V; Bukauskas, Feliksas F FF; Bultynck, Geert G; Leybaert, Luc L
Publication Date: 2013-01

Variant appearance in text: CCD: A88V
PubMed Link: 22796188
Variant Present in the following documents:
  • Main text
View BVdb publication page