EPHX2 c.*93T>C

Variant ID: 8-27402132-T-C

NM_001979.5(EPHX2):c.*93T>C

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs1042064
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs1042064
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.

Molecular Genetics & Genomic Medicine
Paolacci, Stefano S; Kiani, Aysha Karim AK; Manara, Elena E; Beccari, Tommaso T; Ceccarini, Maria Rachele MR; Stuppia, Liborio L; Chiurazzi, Pietro P; Dalla Ragione, Laura L; Bertelli, Matteo M
Publication Date: 2020-07

Variant appearance in text: rs1042064
PubMed Link: 32368866
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1244.pdf
View BVdb publication page



A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.

Frontiers In Genetics
Klein, Kathrin K; Tremmel, Roman R; Winter, Stefan S; Fehr, Sarah S; Battke, Florian F; Scheurenbrand, Tim T; Schaeffeler, Elke E; Biskup, Saskia S; Schwab, Matthias M; Zanger, Ulrich M UM
Publication Date: 2019

Variant appearance in text: rs1042064
PubMed Link: 30766545
Variant Present in the following documents:
  • Main text
  • fgene-10-00007.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs1042064
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs1042064
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 6
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: rs1042064
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Integrating multi-omics biomarkers and postprandial metabolism to develop personalized treatment for anorexia nervosa.

Prostaglandins & Other Lipid Mediators
Shih, Pei-An Betty PB
Publication Date: 2017-09

Variant appearance in text: rs1042064
PubMed Link: 28232135
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans.

Plos One
Aarts, Jac M M J G JM; Alink, Gerrit M GM; Scherjon, Fulco F; MacDonald, Katharine K; Smith, Alison C AC; Nijveen, Harm H; Roebroeks, Wil W
Publication Date: 2016

Variant appearance in text: rs1042064
PubMed Link: 27655273
Variant Present in the following documents:
  • Main text
  • pone.0161102.pdf
View BVdb publication page



Contemporary views on the genetics of anorexia nervosa.

European Neuropsychopharmacology : The Journal Of The European College Of Neuropsychopharmacology
Shih, Pei-an Betty PA; Woodside, D Blake DB
Publication Date: 2016-04

Variant appearance in text: rs1042064
PubMed Link: 26944296
Variant Present in the following documents:
  • Main text
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: rs1042064
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
Publication Date: 2015-10-13

Variant appearance in text: rs1042064
PubMed Link: 26440892
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1042064
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Dysregulation of soluble epoxide hydrolase and lipidomic profiles in anorexia nervosa.

Molecular Psychiatry
Shih, P B PB; Yang, J J; Morisseau, C C; German, J B JB; Zeeland, A A Scott-Van AA; Armando, A M AM; Quehenberger, O O; Bergen, A W AW; Magistretti, P P; Berrettini, W W; Halmi, K A KA; Schork, N N; Hammock, B D BD; Kaye, W W
Publication Date: 2016-04

Variant appearance in text: rs1042064
PubMed Link: 25824304
Variant Present in the following documents:
  • Main text
  • nihms658414.pdf
View BVdb publication page



Evidence for the role of EPHX2 gene variants in anorexia nervosa.

Molecular Psychiatry
Scott-Van Zeeland, A A AA; Bloss, C S CS; Tewhey, R R; Bansal, V V; Torkamani, A A; Libiger, O O; Duvvuri, V V; Wineinger, N N; Galvez, L L; Darst, B F BF; Smith, E N EN; Carson, A A; Pham, P P; Phillips, T T; Villarasa, N N; Tisch, R R; Zhang, G G; Levy, S S; Murray, S S; Chen, W W; Srinivasan, S S; Berenson, G G; Brandt, H H; Crawford, S S; Crow, S S; Fichter, M M MM; Halmi, K A KA; Johnson, C C; Kaplan, A S AS; La Via, M M; Mitchell, J E JE; Strober, M M; Rotondo, A A; Treasure, J J; Woodside, D B DB; Bulik, C M CM; Keel, P P; Klump, K L KL; Lilenfeld, L L; Plotnicov, K K; Topol, E J EJ; Shih, P B PB; Magistretti, P P; Bergen, A W AW; Berrettini, W W; Kaye, W W; Schork, N J NJ
Publication Date: 2014-06

Variant appearance in text: rs1042064
PubMed Link: 23999524
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of the Interaction between 3'-UTR SNPs and microRNA on the Expression of Human Xenobiotic Metabolism Enzyme and Transporter Genes.

Frontiers In Genetics
Wei, Rongrong R; Yang, Fan F; Urban, Thomas J TJ; Li, Lang L; Chalasani, Naga N; Flockhart, David A DA; Liu, Wanqing W
Publication Date: 2012

Variant appearance in text: rs1042064
PubMed Link: 23181071
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study.

Diabetes & Vascular Disease Research
Burdon, Kathryn P KP; Lehtinen, Allison B AB; Langefeld, Carl D CD; Carr, J Jeffrey JJ; Rich, Stephen S SS; Freedman, Barry I BI; Herrington, David D; Bowden, Donald W DW
Publication Date: 2008-06

Variant appearance in text: rs1042064
PubMed Link: 18537101
Variant Present in the following documents:
  • Main text
View BVdb publication page



Survey of allelic expression using EST mining.

Genome Research
Ge, Bing B; Gurd, Scott S; Gaudin, Tiffany T; Dore, Carole C; Lepage, Pierre P; Harmsen, Eef E; Hudson, Thomas J TJ; Pastinen, Tomi T
Publication Date: 2005-11

Variant appearance in text: rs1042064
PubMed Link: 16251468
Variant Present in the following documents:
  • Main text
View BVdb publication page