TP53 c.785_786delinsAG ;(p.G262E)

Variant ID: 17-7577152-AC-CT

NM_000546.5(TP53):c.785_786delinsAG;(p.G262E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: p53: G262E
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



TFAP2A mutations result in branchio-oculo-facial syndrome.

American Journal Of Human Genetics
Milunsky, Jeff M JM; Maher, Tom A TA; Zhao, Geping G; Roberts, Amy E AE; Stalker, Heather J HJ; Zori, Roberto T RT; Burch, Michelle N MN; Clemens, Michele M; Mulliken, John B JB; Smith, Rosemarie R; Lin, Angela E AE
Publication Date: 2008-05

Variant appearance in text: p53: G262E
PubMed Link: 18423521
Variant Present in the following documents:
  • Main text
View BVdb publication page



Urodele p53 tolerates amino acid changes found in p53 variants linked to human cancer.

Bmc Evolutionary Biology
Villiard, Eric E; Brinkmann, Henner H; Moiseeva, Olga O; Mallette, Frédérick A FA; Ferbeyre, Gerardo G; Roy, Stéphane S
Publication Date: 2007-09-28

Variant appearance in text: p53: G262E
PubMed Link: 17903248
Variant Present in the following documents:
  • Main text
  • 1471-2148-7-180.pdf
View BVdb publication page