TG c.5186A>C ;(p.D1729A)

Variant ID: 8-133953740-A-C

NM_003235.4(TG):c.5186A>C;(p.D1729A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: TG: 5186A>C; D1729A; rs61744749
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.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: Asp1729Ala; rs61744749
PubMed Link: 35272499
Variant Present in the following documents:
  • Main text
  • thy.2021.0597.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: TG: D1729A; rs61744749
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page