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F2 c.535C>T ;(p.Q179*)
Variant ID: 11-46745044-C-T
NM_000506.3(
F2
):c.535C>T;(p.Q179*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
Human Molecular Genetics
Zerdoumi, Yasmine Y; Lanos, Raphaël R; Raad, Sabine S; Flaman, Jean-Michel JM; Bougeard, Gaëlle G; Frebourg, Thierry T; Tournier, Isabelle I
Publication Date: 2017-07-15
Variant appearance in text: F2: 535C>T
PubMed Link:
28369373
Variant Present in the following documents:
Main text
ddx106.pdf
View BVdb publication page