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RUNX2 c.239C>T ;(p.A80V)
Variant ID: 6-45390510-C-T
NM_001024630.3(
RUNX2
):c.239C>T;(p.A80V)
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:
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05
Variant appearance in text: RUNX2: A80V
PubMed Link:
27377421
Variant Present in the following documents:
ncomms12072-s2.xlsx, sheet 10
View BVdb publication page
Key amino acid residues involved in the transitions of L- to R-type protofilaments of the Salmonella flagellar filament.
Journal Of Bacteriology
Hayashi, Fumio F; Tomaru, Hidetoshi H; Furukawa, Eiji E; Ikeda, Kanae K; Fukano, Hiroko H; Oosawa, Kenji K
Publication Date: 2013-08
Variant appearance in text: CCD: A80V
PubMed Link:
23729653
Variant Present in the following documents:
Main text
View BVdb publication page