APEH c.852T>G ;(p.Y284*)

Variant ID: 3-49714225-T-G

NM_001640.3(APEH):c.852T>G;(p.Y284*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: APEH: Y284X
PubMed Link: 34239129
Variant Present in the following documents:
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 6
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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: APEH: Y284X
PubMed Link: 34239129
Variant Present in the following documents:
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 6
View BVdb publication page



Genetic and Non-genetic Factors Contributing to the Significant Variation in the Plasma Trough Concentration-to-Dose Ratio of Valproic Acid in Children With Epilepsy.

Frontiers In Pediatrics
Xu, Ze-Yue ZY; Guo, Hong-Li HL; Li, Ling L; Zhang, Min M; Jing, Xia X; Xu, Ze-Jun ZJ; Qiu, Jin-Chun JC; Lu, Xiao-Peng XP; Ding, Xuan-Sheng XS; Chen, Feng F; Xu, Jing J
Publication Date: 2020

Variant appearance in text: rs1131095
PubMed Link: 33553069
Variant Present in the following documents:
  • Main text
  • fped-08-599044.pdf
View BVdb publication page



Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia.

International Journal Of Molecular Sciences
Cacabelos, Ramon R
Publication Date: 2020-04-26

Variant appearance in text: rs1131095
PubMed Link: 32357528
Variant Present in the following documents:
  • Main text
  • ijms-21-03059.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1131095
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
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: rs1131095
PubMed Link: 26440892
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Raelson, John V JV; Little, Randall D RD; Ruether, Andreas A; Fournier, Hélène H; Paquin, Bruno B; Van Eerdewegh, Paul P; Bradley, W E C WE; Croteau, Pascal P; Nguyen-Huu, Quynh Q; Segal, Jonathan J; Debrus, Sophie S; Allard, René R; Rosenstiel, Philip P; Franke, Andre A; Jacobs, Gunnar G; Nikolaus, Susanna S; Vidal, Jean-Michel JM; Szego, Peter P; Laplante, Nathalie N; Clark, Hilary F HF; Paulussen, René J RJ; Hooper, John W JW; Keith, Tim P TP; Belouchi, Abdelmajid A; Schreiber, Stefan S
Publication Date: 2007-09-11

Variant appearance in text: rs1131095
PubMed Link: 17804789
Variant Present in the following documents:
  • Main text
View BVdb publication page