KIT c.2722G>A ;(p.D908N)

Variant ID: 4-55603366-G-A

NM_000222.2(KIT):c.2722G>A;(p.D908N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications
Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH
Publication Date: 2022-05-04

Variant appearance in text: KIT: 2722G>A; Asp908Asn
PubMed Link: 35508466
Variant Present in the following documents:
  • 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



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: KIT: 2722G>A; Asp908Asn
PubMed Link: 34863035
Variant Present in the following documents:
  • MOL2-16-665-s001.xlsx, sheet 5
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: D908N
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Hepatocellular Carcinoma Xenografts Established From Needle Biopsies Preserve the Characteristics of the Originating Tumors.

Hepatology Communications
Blumer, Tanja T; Fofana, Isabel I; Matter, Matthias S MS; Wang, Xueya X; Montazeri, Hesam H; Calabrese, Diego D; Coto-Llerena, Mairene M; Boldanova, Tujana T; Nuciforo, Sandro S; Kancherla, Venkatesh V; Tornillo, Luigi L; Piscuoglio, Salvatore S; Wieland, Stefan S; Terracciano, Luigi M LM; Ng, Charlotte K Y CKY; Heim, Markus H MH
Publication Date: 2019-07

Variant appearance in text: KIT: 2722G>A; Asp908Asn
PubMed Link: 31334445
Variant Present in the following documents:
  • HEP4-3-971-s003.xlsx, sheet 1
View BVdb publication page