TG c.868_870delinsATG ;(p.V290M)

Variant ID: 8-133894836-GTC-ATG

NM_003235.4(TG):c.868_870delinsATG;(p.V290M)

This variant was identified in 9 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: V290M
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: V290M
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: TG: Val290Met
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18

Variant appearance in text: TG: Val290Met
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: TG: Val290Met
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: TG: Val290Met
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Nutrigenomic Functions of PPARs in Obesogenic Environments.

Ppar Research
Chung, Soonkyu S; Kim, Young Jun YJ; Yang, Soo Jin SJ; Lee, Yunkyoung Y; Lee, Myoungsook M
Publication Date: 2016

Variant appearance in text: TG: Val290Met
PubMed Link: 28042289
Variant Present in the following documents:
  • Main text
  • PPAR2016-4794576.pdf
View BVdb publication page



Correlation between PPAR Gene Polymorphisms and Primary Nephrotic Syndrome in Children.

Ppar Research
Jin, Jiaping J; Ding, Guixia G; Bao, Huaying H; Chen, Ying Y; Han, Yuan Y; Zhao, Fei F; Huang, Songming S; Zhang, Aihua A
Publication Date: 2013

Variant appearance in text: TG: Val290Met
PubMed Link: 24109487
Variant Present in the following documents:
  • Main text
  • PPAR2013-927915.pdf
View BVdb publication page



Pparg-P465L mutation worsens hyperglycemia in Ins2-Akita female mice via adipose-specific insulin resistance and storage dysfunction.

Diabetes
Pendse, Avani A AA; Johnson, Lance A LA; Tsai, Yau-Sheng YS; Maeda, Nobuyo N
Publication Date: 2010-11

Variant appearance in text: TG: V290M
PubMed Link: 20724579
Variant Present in the following documents:
  • Main text
  • zdb2890.pdf
View BVdb publication page



PPARgamma and its ligands: therapeutic implications in cardiovascular disease.

Clinical Science (London, England : 1979)
Villacorta, Luis L; Schopfer, Francisco J FJ; Zhang, Jifeng J; Freeman, Bruce A BA; Chen, Y Eugene YE
Publication Date: 2009-02

Variant appearance in text: TG: V290M
PubMed Link: 19118492
Variant Present in the following documents:
  • Main text
View BVdb publication page