ESRRA c.348G>C ;(p.P116=)

Variant ID: 11-64081445-G-C

NM_004451.3(ESRRA):c.348G>C;(p.P116=)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: ESRRA: P116P; rs2276014
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs2276014
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: ESRRA: P116P; rs2276014
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: ESRRA: P116P; rs2276014
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Host genetic variation impacts microbiome composition across human body sites.

Genome Biology
Blekhman, Ran R; Goodrich, Julia K JK; Huang, Katherine K; Sun, Qi Q; Bukowski, Robert R; Bell, Jordana T JT; Spector, Timothy D TD; Keinan, Alon A; Ley, Ruth E RE; Gevers, Dirk D; Clark, Andrew G AG
Publication Date: 2015-09-15

Variant appearance in text: rs2276014
PubMed Link: 26374288
Variant Present in the following documents:
  • 13059_2015_759_MOESM2_ESM.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ESRRA: P116P; rs2276014
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Recent progress in the genetics of common obesity.

British Journal Of Clinical Pharmacology
Loos, Ruth J F RJ
Publication Date: 2009-12

Variant appearance in text: ERRalpha: Pro116Pro
PubMed Link: 20002076
Variant Present in the following documents:
  • Main text
View BVdb publication page



A variant in long palate, lung and nasal epithelium clone 1 is associated with cholera in a Bangladeshi population.

Genes And Immunity
Larocque, R C RC; Sabeti, P P; Duggal, P P; Chowdhury, F F; Khan, A I AI; Lebrun, L M LM; Harris, J B JB; Ryan, E T ET; Qadri, F F; Calderwood, S B SB
Publication Date: 2009-04

Variant appearance in text: rs2276014
PubMed Link: 19212328
Variant Present in the following documents:
  • Main text
View BVdb publication page



The NR3B subgroup: an ovERRview.

Nuclear Receptor Signaling
Tremblay, Annie M AM; Giguère, Vincent V
Publication Date: 2007-11-30

Variant appearance in text: ESRRA: Pro116Pro
PubMed Link: 18174917
Variant Present in the following documents:
  • Main text
  • nrs05009000.pdf
View BVdb publication page