ERAP1 c.*1889T>G

Variant ID: 5-96110211-A-C

NM_001040458.1(ERAP1):c.*1889T>G

This variant was identified in 14 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: rs7063
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



To Be or Not to Be: The Case of Endoplasmic Reticulum Aminopeptidase 2.

Frontiers In Immunology
Kuśnierczyk, Piotr P
Publication Date: 2022

Variant appearance in text: rs7063
PubMed Link: 35769458
Variant Present in the following documents:
  • Main text
  • fimmu-13-902567.pdf
View BVdb publication page



Cigarette smoking-associated isoform switching and 3' UTR lengthening via alternative polyadenylation.

Genomics
Xu, Zhonghui Z; Platig, John J; Lee, Sool S; Boueiz, Adel A; Chase, Rob R; Jain, Dhawal D; Gregory, Andrew A; Suryadevara, Rahul R; Berman, Seth S; Bowler, Russell R; Hersh, Craig P CP; Laederach, Alain A; Castaldi, Peter J PJ; ,
Publication Date: 2021-11

Variant appearance in text: rs7063
PubMed Link: 34763026
Variant Present in the following documents:
  • Main text
  • nihms-1766114.pdf
View BVdb publication page



Cigarette smoking-associated isoform switching and 3' UTR lengthening via alternative polyadenylation.

Genomics
Xu, Zhonghui Z; Platig, John J; Lee, Sool S; Boueiz, Adel A; Chase, Rob R; Jain, Dhawal D; Gregory, Andrew A; Suryadevara, Rahul R; Berman, Seth S; Bowler, Russell R; Hersh, Craig P CP; Laederach, Alain A; Castaldi, Peter J PJ; ,
Publication Date: 2021-11

Variant appearance in text: rs7063
PubMed Link: 34763026
Variant Present in the following documents:
  • Main text
  • nihms-1766114.pdf
View BVdb publication page



A Dual Systems Genetics Approach Identifies Common Genes, Networks, and Pathways for Type 1 and 2 Diabetes in Human Islets.

Frontiers In Genetics
Kaur, Simranjeet S; Mirza, Aashiq H AH; Overgaard, Anne J AJ; Pociot, Flemming F; Størling, Joachim J
Publication Date: 2021

Variant appearance in text: rs7063
PubMed Link: 33777101
Variant Present in the following documents:
  • Main text
  • fgene-12-630109.pdf
View BVdb publication page



HLA-A29 and Birdshot Uveitis: Further Down the Rabbit Hole.

Frontiers In Immunology
Kuiper, Jonas J W JJW; Venema, Wouter J WJ
Publication Date: 2020

Variant appearance in text: rs7063
PubMed Link: 33262772
Variant Present in the following documents:
  • Main text
  • fimmu-11-599558.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs7063
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Impact of Natural Occurring ERAP1 Single Nucleotide Polymorphisms within miRNA-Binding Sites on HCMV Infection.

International Journal Of Molecular Sciences
Melaiu, Ombretta O; D'Amico, Silvia S; Tempora, Patrizia P; Lucarini, Valeria V; Fruci, Doriana D
Publication Date: 2020-08-15

Variant appearance in text: rs7063
PubMed Link: 32824160
Variant Present in the following documents:
  • Main text
  • ijms-21-05861.pdf
View BVdb publication page



How ERAP1 and ERAP2 Shape the Peptidomes of Disease-Associated MHC-I Proteins.

Frontiers In Immunology
López de Castro, José A JA
Publication Date: 2018

Variant appearance in text: rs7063
PubMed Link: 30425713
Variant Present in the following documents:
  • Main text
  • fimmu-09-02463.pdf
View BVdb publication page



Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.

Human Molecular Genetics
Kuiper, Jonas J W JJW; Setten, Jessica van JV; Devall, Matthew M; Cretu-Stancu, Mircea M; Hiddingh, Sanne S; Ophoff, Roel A RA; Missotten, Tom O A R TOAR; Velthoven, Mirjam van MV; Den Hollander, Anneke I AI; Hoyng, Carel B CB; James, Edward E; Reeves, Emma E; Cordero-Coma, Miguel M; Fonollosa, Alejandro A; Adán, Alfredo A; Martín, Javier J; Koeleman, Bobby P C BPC; Boer, Joke H de JH; Pulit, Sara L SL; Márquez, Ana A; Radstake, Timothy R D J TRDJ
Publication Date: 2018-12-15

Variant appearance in text: rs7063
PubMed Link: 30215709
Variant Present in the following documents:
  • Main text
  • ddy319.pdf
View BVdb publication page



Ranking the Contribution of Ankylosing Spondylitis-associated Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphisms to Shaping the HLA-B*27 Peptidome.

Molecular & Cellular Proteomics : Mcp
Sanz-Bravo, Alejandro A; Alvarez-Navarro, Carlos C; Martín-Esteban, Adrian A; Barnea, Eilon E; Admon, Arie A; López de Castro, José A JA
Publication Date: 2018-07

Variant appearance in text: rs7063
PubMed Link: 29632046
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs7063
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.

Plos Genetics
Zhernakova, Daria V DV; de Klerk, Eleonora E; Westra, Harm-Jan HJ; Mastrokolias, Anastasios A; Amini, Shoaib S; Ariyurek, Yavuz Y; Jansen, Rick R; Penninx, Brenda W BW; Hottenga, Jouke J JJ; Willemsen, Gonneke G; de Geus, Eco J EJ; Boomsma, Dorret I DI; Veldink, Jan H JH; van den Berg, Leonard H LH; Wijmenga, Cisca C; den Dunnen, Johan T JT; van Ommen, Gert-Jan B GJ; 't Hoen, Peter A C PA; Franke, Lude L
Publication Date: 2013-06

Variant appearance in text: rs7063
PubMed Link: 23818875
Variant Present in the following documents:
  • Main text
  • pgen.1003594.pdf
View BVdb publication page



Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals.

American Journal Of Human Genetics
Ding, Jun J; Gudjonsson, Johann E JE; Liang, Liming L; Stuart, Philip E PE; Li, Yun Y; Chen, Wei W; Weichenthal, Michael M; Ellinghaus, Eva E; Franke, Andre A; Cookson, William W; Nair, Rajan P RP; Elder, James T JT; Abecasis, Gonçalo R GR
Publication Date: 2010-12-10

Variant appearance in text: rs7063
PubMed Link: 21129726
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of T. gondii epitopes, adjuvants, and host genetic factors that influence protection of mice and humans.

Vaccine
Tan, Tze Guan TG; Mui, Ernest E; Cong, Hua H; Witola, William H WH; Montpetit, Alexandre A; Muench, Stephen P SP; Sidney, John J; Alexander, Jeff J; Sette, Alessandro A; Grigg, Michael E ME; Maewal, Ajesh A; McLeod, Rima R
Publication Date: 2010-05-21

Variant appearance in text: rs7063
PubMed Link: 20347630
Variant Present in the following documents:
  • Main text
View BVdb publication page