FAT1 c.6026A>G ;(p.N2009S)

Variant ID: 4-187541714-T-C

NM_005245.3(FAT1):c.6026A>G;(p.N2009S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: FAT1: 6026A>G; N2009S
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

American Journal Of Human Genetics
Pehlivan, Davut D; Bayram, Yavuz Y; Gunes, Nilay N; Coban Akdemir, Zeynep Z; Shukla, Anju A; Bierhals, Tatjana T; Tabakci, Burcu B; Sahin, Yavuz Y; Gezdirici, Alper A; Fatih, Jawid M JM; Gulec, Elif Yilmaz EY; Yesil, Gozde G; Punetha, Jaya J; Ocak, Zeynep Z; Grochowski, Christopher M CM; Karaca, Ender E; Albayrak, Hatice Mutlu HM; Radhakrishnan, Periyasamy P; Erdem, Haktan Bagis HB; Sahin, Ibrahim I; Yildirim, Timur T; Bayhan, Ilhan A IA; Bursali, Aysegul A; Elmas, Muhsin M; Yuksel, Zafer Z; Ozdemir, Ozturk O; Silan, Fatma F; Yildiz, Onur O; Yesilbas, Osman O; Isikay, Sedat S; Balta, Burhan B; Gu, Shen S; Jhangiani, Shalini N SN; Doddapaneni, Harsha H; Hu, Jianhong J; Muzny, Donna M DM; , ; Boerwinkle, Eric E; Gibbs, Richard A RA; Tsiakas, Konstantinos K; Hempel, Maja M; Girisha, Katta Mohan KM; Gul, Davut D; Posey, Jennifer E JE; Elcioglu, Nursel H NH; Tuysuz, Beyhan B; Lupski, James R JR
Publication Date: 2019-07-03

Variant appearance in text: FAT1: 6026A>G; Asn2009Ser
PubMed Link: 31230720
Variant Present in the following documents:
  • Main text
View BVdb publication page