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RUNX2 c.74G>A ;(p.R25Q)
Variant ID: 6-45390345-G-A
NM_001024630.3(
RUNX2
):c.74G>A;(p.R25Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structural analysis of the bright monomeric yellow-green fluorescent protein mNeonGreen obtained by directed evolution.
Acta Crystallographica. Section D, Structural Biology
Clavel, Damien D; Gotthard, Guillaume G; von Stetten, David D; De Sanctis, Daniele D; Pasquier, Hélène H; Lambert, Gerard G GG; Shaner, Nathan C NC; Royant, Antoine A
Publication Date: 2016-12-01
Variant appearance in text: CCD: R25Q
PubMed Link:
27917830
Variant Present in the following documents:
Main text
View BVdb publication page
Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1.
The Journal Of Biological Chemistry
Qu, Zhiqiang Z; Cheng, Wei W; Cui, Yuanyuan Y; Cui, Yuanyuan Y; Zheng, Jie J
Publication Date: 2009-06-12
Variant appearance in text: CCD: R25Q
PubMed Link:
19372599
Variant Present in the following documents:
Main text
View BVdb publication page