SI c.743G>A ;(p.R248K)

Variant ID: 3-164783113-C-T

NM_001041.3(SI):c.743G>A;(p.R248K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Frontiers In Oncology
Bao, Chaohui C; An, Na N; Xie, Hong H; Xu, Ling L; Zhou, Boping B; Luo, Jun J; Huang, Wanqiu W; Huang, Jian J
Publication Date: 2021

Variant appearance in text: SI: R248K
PubMed Link: 34221990
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_3.xlsx, sheet 1
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: SI: 743G>A
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: SI: R248K
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Alleviating product inhibition in cellulase enzyme Cel7A.

Biotechnology And Bioengineering
Atreya, Meera E ME; Strobel, Kathryn L KL; Clark, Douglas S DS
Publication Date: 2016-02

Variant appearance in text: SI: R248K
PubMed Link: 26302366
Variant Present in the following documents:
  • Main text
  • BIT-113-330.pdf
View BVdb publication page