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RUNX2 c.577C>G ;(p.R193G)
Variant ID: 6-45399753-C-G
NM_001024630.3(
RUNX2
):c.577C>G;(p.R193G)
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
ClinVar
dbSNP
Publications:
Insight into Structural Aspects of Histidine 284 of Daphnia magna Arginine Kinase.
Molecules And Cells
Rao, Zhili Z; Kim, So Young SY; Li, Xiaotong X; Kim, Da Som DS; Kim, Yong Ju YJ; Park, Jung Hee JH
Publication Date: 2020-09-30
Variant appearance in text: CCD: R193G
PubMed Link:
32863281
Variant Present in the following documents:
Main text
molce-43-784.pdf
View BVdb publication page
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Medicine
Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T
Publication Date: 2018-08
Variant appearance in text: RUNX2: 577C>G
PubMed Link:
30095610
Variant Present in the following documents:
View BVdb publication page
Pak1 and PIX regulate contact inhibition during epithelial wound healing.
The Embo Journal
Zegers, Mirjam M P MM; Forget, Marie-Annick MA; Chernoff, Jonathan J; Mostov, Keith E KE; ter Beest, Martin B A MB; Hansen, Steen H SH
Publication Date: 2003-08-15
Variant appearance in text: CCD: R193G
PubMed Link:
12912914
Variant Present in the following documents:
Main text
View BVdb publication page