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RUNX2 c.598A>T ;(p.T200S)
Variant ID: 6-45405701-A-T
NM_001024630.3(
RUNX2
):c.598A>T;(p.T200S)
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:
The Crystal Structure of a hCA VII Variant Provides Insights into the Molecular Determinants Responsible for Its Catalytic Behavior.
International Journal Of Molecular Sciences
Buonanno, Martina M; Di Fiore, Anna A; Langella, Emma E; D'Ambrosio, Katia K; Supuran, Claudiu T CT; Monti, Simona Maria SM; De Simone, Giuseppina G
Publication Date: 2018-05-24
Variant appearance in text: CCD: T200S
PubMed Link:
29795045
Variant Present in the following documents:
Main text
ijms-19-01571.pdf
View BVdb publication page
Allosteric site variants of Haemophilus influenzae beta-carbonic anhydrase.
Biochemistry
Rowlett, Roger S RS; Tu, Chingkuang C; Lee, Joseph J; Herman, Ariel G AG; Chapnick, Douglas A DA; Shah, Shalini H SH; Gareiss, Peter C PC
Publication Date: 2009-07-07
Variant appearance in text: CCD: T200S
PubMed Link:
19459702
Variant Present in the following documents:
Main text
View BVdb publication page