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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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