KMT2D c.7246C>A ;(p.Q2416K)

Variant ID: 12-49434307-G-T

NM_003482.3(KMT2D):c.7246C>A;(p.Q2416K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: KMT2D: 7246C>A; Q2416K
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: KMT2D: Q2416K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page