RUNX2 c.691_693delinsCAT ;(p.R231H)

Variant ID: 6-45459683-AGA-CAT

NM_001024630.3(RUNX2):c.691_693delinsCAT;(p.R231H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75.

Nucleic Acids Research
Lapaillerie, Delphine D; Lelandais, Benoît B; Mauro, Eric E; Lagadec, Floriane F; Tumiotto, Camille C; Miskey, Csaba C; Ferran, Guillaume G; Kuschner, Natacha N; Calmels, Christina C; Métifiot, Mathieu M; Rooryck, Caroline C; Ivics, Zoltan Z; Ruff, Marc M; Zimmer, Christophe C; Lesbats, Paul P; Toutain, Jérôme J; Parissi, Vincent V
Publication Date: 2021-11-08

Variant appearance in text: CCD: R231H
PubMed Link: 34634812
Variant Present in the following documents:
  • Main text
  • gkab886.pdf
View BVdb publication page



IDH1 mutations induce organelle defects via dysregulated phospholipids.

Nature Communications
Lita, Adrian A; Pliss, Artem A; Kuzmin, Andrey A; Yamasaki, Tomohiro T; Zhang, Lumin L; Dowdy, Tyrone T; Burks, Christina C; de Val, Natalia N; Celiku, Orieta O; Ruiz-Rodado, Victor V; Nicoli, Elena-Raluca ER; Kruhlak, Michael M; Andresson, Thorkell T; Das, Sudipto S; Yang, Chunzhang C; Schmitt, Rebecca R; Herold-Mende, Christel C; Gilbert, Mark R MR; Prasad, Paras N PN; Larion, Mioara M
Publication Date: 2021-01-27

Variant appearance in text: CCD: R231H
PubMed Link: 33504762
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cellular origins and genetic landscape of cutaneous gamma delta T cell lymphomas.

Nature Communications
Daniels, Jay J; Doukas, Peter G PG; Escala, Maria E Martinez MEM; Ringbloom, Kimberly G KG; Shih, David J H DJH; Yang, Jingyi J; Tegtmeyer, Kyle K; Park, Joonhee J; Thomas, Jane J JJ; Selli, Mehmet E ME; Altunbulakli, Can C; Gowthaman, Ragul R; Mo, Samuel H SH; Jothishankar, Balaji B; Pease, David R DR; Pro, Barbara B; Abdulla, Farah R FR; Shea, Christopher C; Sahni, Nidhi N; Gru, Alejandro A AA; Pierce, Brian G BG; Louissaint, Abner A; Guitart, Joan J; Choi, Jaehyuk J
Publication Date: 2020-04-14

Variant appearance in text: RUNX2: R231H
PubMed Link: 32286303
Variant Present in the following documents:
  • 41467_2020_15572_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integrase residues that determine nucleotide preferences at sites of HIV-1 integration: implications for the mechanism of target DNA binding.

Nucleic Acids Research
Serrao, Erik E; Krishnan, Lavanya L; Shun, Ming-Chieh MC; Li, Xiang X; Cherepanov, Peter P; Engelman, Alan A; Maertens, Goedele N GN
Publication Date: 2014-04

Variant appearance in text: CCD: R231H
PubMed Link: 24520116
Variant Present in the following documents:
  • Main text
  • gku136.pdf
View BVdb publication page