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RUNX2 c.457_459delinsATC ;(p.V153I)
Variant ID: 6-45399633-GTG-ATC
NM_001024630.3(
RUNX2
):c.457_459delinsATC;(p.V153I)
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:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: CCD: V153I
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Active site and remote contributions to catalysis in methylthioadenosine nucleosidases.
Biochemistry
Thomas, Keisha K; Cameron, Scott A SA; Almo, Steven C SC; Burgos, Emmanuel S ES; Gulab, Shivali A SA; Schramm, Vern L VL
Publication Date: 2015-04-21
Variant appearance in text: CCD: V153I
PubMed Link:
25806409
Variant Present in the following documents:
Main text
View BVdb publication page