HBG2 c.293A>T ;(p.H98L)

Variant ID: 11-5275544-T-A

NM_000184.2(HBG2):c.293A>T;(p.H98L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Epigenetic priming in chronic liver disease impacts the transcriptional and genetic landscapes of hepatocellular carcinoma.

Molecular Oncology
Gallon, John J; Coto-Llerena, Mairene M; Ercan, Caner C; Bianco, Gaia G; Paradiso, Viola V; Nuciforo, Sandro S; Taha-Melitz, Stephanie S; Meier, Marie-Anne MA; Boldanova, Tujana T; Pérez-Del-Pulgar, Sofía S; Rodríguez-Tajes, Sergio S; von Flüe, Markus M; Soysal, Savas D SD; Kollmar, Otto O; Llovet, Josep M JM; Villanueva, Augusto A; Terracciano, Luigi M LM; Heim, Markus H MH; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S
Publication Date: 2022-02

Variant appearance in text: HBG2: 293A>T
PubMed Link: 34863035
Variant Present in the following documents:
  • MOL2-16-665-s001.xlsx, sheet 5
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: HBG2: H98L
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.

Nature Communications
Esfahani, Mohammad S MS; Lee, Luke J LJ; Jeon, Young-Jun YJ; Flynn, Ryan A RA; Stehr, Henning H; Hui, Angela B AB; Ishisoko, Noriko N; Kildebeck, Eric E; Newman, Aaron M AM; Bratman, Scott V SV; Porteus, Matthew H MH; Chang, Howard Y HY; Alizadeh, Ash A AA; Diehn, Maximilian M
Publication Date: 2019-12-13

Variant appearance in text: HBG2: H98L
PubMed Link: 31836708
Variant Present in the following documents:
  • 41467_2019_13392_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: HBG2: H98L
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page