KDM5A c.3234C>T ;(p.T1078=)

Variant ID: 12-419113-G-A

NM_001042603.1(KDM5A):c.3234C>T;(p.T1078=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: KDM5A: T1078T
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



De novo mutations in histone-modifying genes in congenital heart disease.

Nature
Zaidi, Samir S; Choi, Murim M; Wakimoto, Hiroko H; Ma, Lijiang L; Jiang, Jianming J; Overton, John D JD; Romano-Adesman, Angela A; Bjornson, Robert D RD; Breitbart, Roger E RE; Brown, Kerry K KK; Carriero, Nicholas J NJ; Cheung, Yee Him YH; Deanfield, John J; DePalma, Steve S; Fakhro, Khalid A KA; Glessner, Joseph J; Hakonarson, Hakon H; Italia, Michael J MJ; Kaltman, Jonathan R JR; Kaski, Juan J; Kim, Richard R; Kline, Jennie K JK; Lee, Teresa T; Leipzig, Jeremy J; Lopez, Alexander A; Mane, Shrikant M SM; Mitchell, Laura E LE; Newburger, Jane W JW; Parfenov, Michael M; Pe'er, Itsik I; Porter, George G; Roberts, Amy E AE; Sachidanandam, Ravi R; Sanders, Stephan J SJ; Seiden, Howard S HS; State, Mathew W MW; Subramanian, Sailakshmi S; Tikhonova, Irina R IR; Wang, Wei W; Warburton, Dorothy D; White, Peter S PS; Williams, Ismee A IA; Zhao, Hongyu H; Seidman, Jonathan G JG; Brueckner, Martina M; Chung, Wendy K WK; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Seidman, Christine E CE; Lifton, Richard P RP
Publication Date: 2013-06-13

Variant appearance in text: KDM5A: T1078T
PubMed Link: 23665959
Variant Present in the following documents:
  • NIHMS483564-supplement-1.pdf
View BVdb publication page