UPP2 c.847G>A ;(p.D283N)

Variant ID: 2-158991295-G-A

NM_173355.3(UPP2):c.847G>A;(p.D283N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: UPP2: 847G>A; D283N; rs371644480
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Nature Communications
Ma, Xiaotu X; Edmonson, Michael M; Yergeau, Donald D; Muzny, Donna M DM; Hampton, Oliver A OA; Rusch, Michael M; Song, Guangchun G; Easton, John J; Harvey, Richard C RC; Wheeler, David A DA; Ma, Jing J; Doddapaneni, HarshaVardhan H; Vadodaria, Bhavin B; Wu, Gang G; Nagahawatte, Panduka P; Carroll, William L WL; Chen, I-Ming IM; Gastier-Foster, Julie M JM; Relling, Mary V MV; Smith, Malcolm A MA; Devidas, Meenakshi M; Guidry Auvil, Jaime M JM; Downing, James R JR; Loh, Mignon L ML; Willman, Cheryl L CL; Gerhard, Daniela S DS; Mullighan, Charles G CG; Hunger, Stephen P SP; Zhang, Jinghui J
Publication Date: 2015-03-19

Variant appearance in text: UPP2: D283N
PubMed Link: 25790293
Variant Present in the following documents:
  • ncomms7604-s3.xls, sheet 1
View BVdb publication page