RET c.3270T>G ;(p.Y1090*)

Variant ID: 10-43623642-T-G

NM_020975.4(RET):c.3270T>G;(p.Y1090*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: RET: 3270T>G; Tyr1090Ter
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Mutation Status and Epithelial Differentiation Stratify Recurrence Risk in Chordoid Meningioma-A Multicenter Study with High Prognostic Relevance.

Cancers
Georgescu, Maria-Magdalena MM; Nanda, Anil A; Li, Yan Y; Mobley, Bret C BC; Faust, Phyllis L PL; Raisanen, Jack M JM; Olar, Adriana A
Publication Date: 2020-01-17

Variant appearance in text: RET: Y1090*
PubMed Link: 31963394
Variant Present in the following documents:
  • Main text
View BVdb publication page



A system for detecting high impact-low frequency mutations in primary tumors and metastases.

Oncogene
Anjanappa, M M; Hao, Y Y; Simpson, E R ER; Bhat-Nakshatri, P P; Nelson, J B JB; Tersey, S A SA; Mirmira, R G RG; Cohen-Gadol, A A AA; Saadatzadeh, M R MR; Li, L L; Fang, F F; Nephew, K P KP; Miller, K D KD; Liu, Y Y; Nakshatri, H H
Publication Date: 2018-01-11

Variant appearance in text: RET: Y1090X
PubMed Link: 28892047
Variant Present in the following documents:
  • Main text
View BVdb publication page