RUNX2 c.1092T>C ;(p.A364=)

Variant ID: 6-45514568-T-C

NM_001024630.3(RUNX2):c.1092T>C;(p.A364=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Communication between distinct subunit interfaces of the cohesin complex promotes its topological entrapment of DNA.

Elife
Guacci, Vincent V; Chatterjee, Fiona F; Robison, Brett B; Koshland, Douglas E DE
Publication Date: 2019-06-04

Variant appearance in text: CCD: A364A
PubMed Link: 31162048
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: RUNX2: A364A
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: RUNX2: A364A
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



High-resolution replication profiles define the stochastic nature of genome replication initiation and termination.

Cell Reports
Hawkins, Michelle M; Retkute, Renata R; Müller, Carolin A CA; Saner, Nazan N; Tanaka, Tomoyuki U TU; de Moura, Alessandro P S AP; Nieduszynski, Conrad A CA
Publication Date: 2013-11-27

Variant appearance in text: CCD: A364a
PubMed Link: 24210825
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc3.pdf
View BVdb publication page



Genetic evidence that the acetylation of the Smc3p subunit of cohesin modulates its ATP-bound state to promote cohesion establishment in Saccharomyces cerevisiae.

Genetics
Heidinger-Pauli, Jill M JM; Onn, Itay I; Koshland, Douglas D
Publication Date: 2010-08

Variant appearance in text: CCD: A364A
PubMed Link: 20498298
Variant Present in the following documents:
  • Main text
View BVdb publication page