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RUNX2 c.1093_1095delinsGAC ;(p.S365D)
Variant ID: 6-45514569-TCA-GAC
NM_001024630.3(
RUNX2
):c.1093_1095delinsGAC;(p.S365D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
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dbSNP
Publications:
The lipidated connexin mimetic peptide SRPTEKT-Hdc is a potent inhibitor of Cx43 channels with specificity for the pS368 phospho-isoform.
American Journal Of Physiology. Cell Physiology
Cotter, Maura L ML; Boitano, Scott S; Lampe, Paul D PD; Solan, Joell L JL; Vagner, Josef J; Ek-Vitorin, Jose F JF; Burt, Janis M JM
Publication Date: 2019-10-01
Variant appearance in text: CCD: S365D
PubMed Link:
31365296
Variant Present in the following documents:
Main text
View BVdb publication page
Phosphorylation regulates connexin43/ZO-1 binding and release, an important step in gap junction turnover.
Molecular Biology Of The Cell
Thévenin, Anastasia F AF; Margraf, Rachel A RA; Fisher, Charles G CG; Kells-Andrews, Rachael M RM; Falk, Matthias M MM
Publication Date: 2017-12-01
Variant appearance in text: CCD: S365D
PubMed Link:
29021339
Variant Present in the following documents:
Main text
3595.pdf
View BVdb publication page
A novel membrane-dependent on/off switch mechanism of talin FERM domain at sites of cell adhesion.
Cell Research
Song, Xianqiang X; Yang, Jun J; Hirbawi, Jamila J; Ye, Sheng S; Perera, H Dhanuja HD; Goksoy, Esen E; Dwivedi, Pallavi P; Plow, Edward F EF; Zhang, Rongguang R; Qin, Jun J
Publication Date: 2012-11
Variant appearance in text: CCD: S365D
PubMed Link:
22710802
Variant Present in the following documents:
Main text
View BVdb publication page