TG c.3749G>A ;(p.R1250H)

Variant ID: 8-133919047-G-A

NM_003235.4(TG):c.3749G>A;(p.R1250H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 3749G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

Thyroid : Official Journal Of The American Thyroid Association
Larrivée-Vanier, Stéphanie S; Jean-Louis, Martineau M; Magne, Fabien F; Bui, Helen H; Rouleau, Guy A GA; Spiegelman, Dan D; Samuels, Mark E ME; Kibar, Zoha Z; Van Vliet, Guy G; Deladoëy, Johnny J
Publication Date: 2022-05

Variant appearance in text: TG: Arg1250His; rs114944116
PubMed Link: 35272499
Variant Present in the following documents:
  • Main text
  • thy.2021.0597.pdf
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: TG: 3749G>A
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page