NT5C1B c.1501G>A ;(p.E501K)

Variant ID: 2-18745214-C-T

NM_033253.3(NT5C1B):c.1501G>A;(p.E501K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: NT5C1B: E501K; rs140939592
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: NT5C1B: 1501G>A; E501K; rs140939592
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: NT5C1B: E501K
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
View BVdb publication page



Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Nature Genetics
Balbás-Martínez, Cristina C; Sagrera, Ana A; Carrillo-de-Santa-Pau, Enrique E; Earl, Julie J; Márquez, Mirari M; Vazquez, Miguel M; Lapi, Eleonora E; Castro-Giner, Francesc F; Beltran, Sergi S; Bayés, Mònica M; Carrato, Alfredo A; Cigudosa, Juan C JC; Domínguez, Orlando O; Gut, Marta M; Herranz, Jesús J; Juanpere, Núria N; Kogevinas, Manolis M; Langa, Xavier X; López-Knowles, Elena E; Lorente, José A JA; Lloreta, Josep J; Pisano, David G DG; Richart, Laia L; Rico, Daniel D; Salgado, Rocío N RN; Tardón, Adonina A; Chanock, Stephen S; Heath, Simon S; Valencia, Alfonso A; Losada, Ana A; Gut, Ivo I; Malats, Núria N; Real, Francisco X FX
Publication Date: 2013-12

Variant appearance in text: NT5C1B: E501K
PubMed Link: 24121791
Variant Present in the following documents:
  • NIHMS525200-supplement-2.xls, sheet 1
View BVdb publication page