RUNX2 c.553_554delinsGC ;(p.L185A)

Variant ID: 6-45399729-CT-GC

NM_001024630.3(RUNX2):c.553_554delinsGC;(p.L185A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Photocrosslinking-induced CRAC channel-like Orai1 activation independent of STIM1.

Nature Communications
Maltan, Lena L; Weiß, Sarah S; Najjar, Hadil H; Leopold, Melanie M; Lindinger, Sonja S; Höglinger, Carmen C; Höbarth, Lorenz L; Sallinger, Matthias M; Grabmayr, Herwig H; Berlansky, Sascha S; Krivic, Denis D; Hopl, Valentina V; Blaimschein, Anna A; Fahrner, Marc M; Frischauf, Irene I; Tiffner, Adéla A; Derler, Isabella I
Publication Date: 2023-03-08

Variant appearance in text: CCD: L185A
PubMed Link: 36890174
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_36458.pdf
View BVdb publication page



Distinct histone H3-H4 binding modes of sNASP reveal the basis for cooperation and competition of histone chaperones.

Genes & Development
Liu, Chao-Pei CP; Jin, Wenxing W; Hu, Jie J; Wang, Mingzhu M; Chen, Jingjing J; Li, Guohong G; Xu, Rui-Ming RM
Publication Date: 2021-12-01

Variant appearance in text: CCD: L185A
PubMed Link: 34819355
Variant Present in the following documents:
  • Main text
  • 1610.pdf
View BVdb publication page



Transmembrane Domain 3 (TM3) Governs Orai1 and Orai3 Pore Opening in an Isoform-Specific Manner.

Frontiers In Cell And Developmental Biology
Tiffner, Adéla A; Maltan, Lena L; Fahrner, Marc M; Sallinger, Matthias M; Weiß, Sarah S; Grabmayr, Herwig H; Höglinger, Carmen C; Derler, Isabella I
Publication Date: 2021

Variant appearance in text: CCD: L185A
PubMed Link: 33644073
Variant Present in the following documents:
  • Main text
  • fcell-09-635705.pdf
View BVdb publication page



Atomic structure of salutaridine reductase from the opium poppy (Papaver somniferum).

The Journal Of Biological Chemistry
Higashi, Yasuhiro Y; Kutchan, Toni M TM; Smith, Thomas J TJ
Publication Date: 2011-02-25

Variant appearance in text: CCD: L185A
PubMed Link: 21169353
Variant Present in the following documents:
  • Main text
View BVdb publication page