TP53 c.1000_1011del ;(p.G334_R337del)

Variant ID: 17-7574016-AGCGCTCACGCCC-A

NM_000546.5(TP53):c.1000_1011del;(p.G334_R337del)

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:

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TP53: G334_R337del
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page


TP53 alterations in Wilms tumour represent progression events with strong intratumour heterogeneity that are closely linked but not limited to anaplasia.

The Journal Of Pathology. Clinical Research
Wegert, Jenny J; Vokuhl, Christian C; Ziegler, Barbara B; Ernestus, Karen K; Leuschner, Ivo I; Furtwängler, Rhoikos R; Graf, Norbert N; Gessler, Manfred M
Publication Date: 2017-10

Variant appearance in text: TP53: 1000_1011del
PubMed Link: 29085664
Variant Present in the following documents:
  • Main text
  • CJP2-3-234.pdf
View BVdb publication page