RUNX2 c.973C>T ;(p.R325W)

Variant ID: 6-45480096-C-T

NM_001024630.3(RUNX2):c.973C>T;(p.R325W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: RUNX2: R325W
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants.

Diabetes
Nicolson, Tamara J TJ; Bellomo, Elisa A EA; Wijesekara, Nadeeja N; Loder, Merewyn K MK; Baldwin, Jocelyn M JM; Gyulkhandanyan, Armen V AV; Koshkin, Vasilij V; Tarasov, Andrei I AI; Carzaniga, Raffaella R; Kronenberger, Katrin K; Taneja, Tarvinder K TK; da Silva Xavier, Gabriela G; Libert, Sarah S; Froguel, Philippe P; Scharfmann, Raphael R; Stetsyuk, Volodymir V; Ravassard, Philippe P; Parker, Helen H; Gribble, Fiona M FM; Reimann, Frank F; Sladek, Robert R; Hughes, Stephen J SJ; Johnson, Paul R V PR; Masseboeuf, Myriam M; Burcelin, Remy R; Baldwin, Stephen A SA; Liu, Ming M; Lara-Lemus, Roberto R; Arvan, Peter P; Schuit, Frans C FC; Wheeler, Michael B MB; Chimienti, Fabrice F; Rutter, Guy A GA
Publication Date: 2009-09

Variant appearance in text: CCD: R325W
PubMed Link: 19542200
Variant Present in the following documents:
  • Main text
  • zdb2070.pdf
View BVdb publication page