TG c.2218_2219delinsTA ;(p.R740*)

Variant ID: 8-133900270-AG-TA

NM_003235.4(TG):c.2218_2219delinsTA;(p.R740*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: TG: R740*
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: TG: R740*
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Polycystin-2 activation by inositol 1,4,5-trisphosphate-induced Ca2+ release requires its direct association with the inositol 1,4,5-trisphosphate receptor in a signaling microdomain.

The Journal Of Biological Chemistry
Sammels, Eva E; Devogelaere, Benoit B; Mekahli, Djalila D; Bultynck, Geert G; Missiaen, Ludwig L; Parys, Jan B JB; Cai, Yiqiang Y; Somlo, Stefan S; De Smedt, Humbert H
Publication Date: 2010-06-11

Variant appearance in text: TG: R740X
PubMed Link: 20375013
Variant Present in the following documents:
  • Main text
View BVdb publication page