ESD c.322G>A ;(p.D108N)

Variant ID: 13-47356861-C-T

NM_001984.1(ESD):c.322G>A;(p.D108N)

This variant was identified in 3 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: ESD: D108N
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications
Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP
Publication Date: 2019-07-02

Variant appearance in text: ESD: 322G>A; Asp108Asn
PubMed Link: 31266935
Variant Present in the following documents:
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 1
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Tumourigenic non-small-cell lung cancer mesenchymal circulating tumour cells: a clinical case study.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Morrow, C J CJ; Trapani, F F; Metcalf, R L RL; Bertolini, G G; Hodgkinson, C L CL; Khandelwal, G G; Kelly, P P; Galvin, M M; Carter, L L; Simpson, K L KL; Williamson, S S; Wirth, C C; Simms, N N; Frankliln, L L; Frese, K K KK; Rothwell, D G DG; Nonaka, D D; Miller, C J CJ; Brady, G G; Blackhall, F H FH; Dive, C C
Publication Date: 2016-06

Variant appearance in text: ESD: D108N
PubMed Link: 27013395
Variant Present in the following documents:
  • supp_mdw122_mdw122supp_table1.xlsx, sheet 1
View BVdb publication page