KMT2D c.4195C>T ;(p.Q1399*)

Variant ID: 12-49441789-G-A

NM_003482.3(KMT2D):c.4195C>T;(p.Q1399*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Single-cell profiling reveals a memory B cell-like subtype of follicular lymphoma with increased transformation risk.

Nature Communications
Wang, Xuehai X; Nissen, Michael M; Gracias, Deanne D; Kusakabe, Manabu M; Simkin, Guillermo G; Jiang, Aixiang A; Duns, Gerben G; Sarkozy, Clementine C; Hilton, Laura L; Chavez, Elizabeth A EA; Segat, Gabriela C GC; Wong, Rachel R; Kim, Jubin J; Aoki, Tomohiro T; Islam, Rashedul R; May, Christina C; Hung, Stacy S; Tyshchenko, Kate K; Brinkman, Ryan R RR; Hirst, Martin M; Karsan, Aly A; Freeman, Ciara C; Sehn, Laurie H LH; Morin, Ryan D RD; Roth, Andrew J AJ; Savage, Kerry J KJ; Craig, Jeffrey W JW; Shah, Sohrab P SP; Steidl, Christian C; Scott, David W DW; Weng, Andrew P AP
Publication Date: 2022-11-09

Variant appearance in text: KMT2D: 4195C>T; Q1399*
PubMed Link: 36351924
Variant Present in the following documents:
  • 41467_2022_34408_MOESM10_ESM.xlsx, sheet 3
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Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: KMT2D: Q1399*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D.

Thyroid : Official Journal Of The American Thyroid Association
Nieminen, Taina T TT; Walker, Christopher J CJ; Olkinuora, Alisa A; Genutis, Luke K LK; O'Malley, Margaret M; Wakely, Paul E PE; LaGuardia, Lisa L; Koskenvuo, Laura L; Arola, Johanna J; Lepistö, Anna H AH; Brock, Pamela P; Yilmaz, Ayse Selen AS; Eisfeld, Ann-Kathrin AK; Church, James M JM; Peltomäki, Päivi P; de la Chapelle, Albert A
Publication Date: 2020-03

Variant appearance in text: KMT2D: 4195C>T
PubMed Link: 32024448
Variant Present in the following documents:
  • Main text
View BVdb publication page