RUNX2 c.230C>T ;(p.A77V)

Variant ID: 6-45390501-C-T

NM_001024630.3(RUNX2):c.230C>T;(p.A77V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


An iterative computational design approach to increase the thermal endurance of a mesophilic enzyme.

Biotechnology For Biofuels
Sammond, Deanne W DW; Kastelowitz, Noah N; Donohoe, Bryon S BS; Alahuhta, Markus M; Lunin, Vladimir V VV; Chung, Daehwan D; Sarai, Nicholas S NS; Yin, Hang H; Mittal, Ashutosh A; Himmel, Michael E ME; Guss, Adam M AM; Bomble, Yannick J YJ
Publication Date: 2018

Variant appearance in text: CCD: A77V
PubMed Link: 30002729
Variant Present in the following documents:
  • Main text
  • 13068_2018_Article_1178.pdf
View BVdb publication page



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: RUNX2: A77V
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: RUNX2: A77V
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Environment-dependent long-range structural distortion in a temperature-sensitive point mutant.

Protein Science : A Publication Of The Protein Society
Carey, Jannette J; Benoff, Brian B; Harish, Balasubramanian B; Yuan, Lara L; Lawson, Catherine L CL
Publication Date: 2012-01

Variant appearance in text: CCD: A77V
PubMed Link: 22057811
Variant Present in the following documents:
  • Main text
View BVdb publication page