FLG2 c.6116A>C ;(p.H2039P)

Variant ID: 1-152324146-T-G

NM_001014342.2(FLG2):c.6116A>C;(p.H2039P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Nature Genetics
Körber, Verena V; Stainczyk, Sabine A SA; Kurilov, Roma R; Henrich, Kai-Oliver KO; Hero, Barbara B; Brors, Benedikt B; Westermann, Frank F; Höfer, Thomas T
Publication Date: 2023-03-27

Variant appearance in text: FLG2: H2039P; rs141276572
PubMed Link: 36973454
Variant Present in the following documents:
  • 41588_2023_1332_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: FLG2: H2039P
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: FLG2: 6116A>C; H2039P; rs141276572
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr
Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F
Publication Date: 2019-02-12

Variant appearance in text: FLG2: H2039P
PubMed Link: 30755224
Variant Present in the following documents:
  • 13046_2019_1066_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: FLG2: H2039P; rs141276572
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 3
  • NIHMS753666-supplement-2.xlsx, sheet 8
  • NIHMS753666-supplement-2.xlsx, sheet 5
  • NIHMS753666-supplement-2.xlsx, sheet 7
  • NIHMS753666-supplement-2.xlsx, sheet 9
View BVdb publication page