TAP1 c.1910A>G ;(p.D637G)

Variant ID: 6-32814975-T-C

NM_000593.5(TAP1):c.1910A>G;(p.D637G)

This variant was identified in 48 publications

View GRCh38 version.




Publications:


Pharmacogenomics on the Treatment Response in Patients with Psoriasis: An Updated Review.

International Journal Of Molecular Sciences
Wang, Ching-Ya CY; Wang, Chuang-Wei CW; Chen, Chun-Bing CB; Chen, Wei-Ti WT; Chang, Ya-Ching YC; Hui, Rosaline Chung-Yee RC; Chung, Wen-Hung WH
Publication Date: 2023-04-15

Variant appearance in text: rs1135216
PubMed Link: 37108492
Variant Present in the following documents:
  • ijms-24-07329.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: TAP1: D697G
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



The antigen processing-associated transporter gene polymorphism: Role on gene and protein expression in HPV-infected pre-cancerous cervical lesion.

Frontiers In Cellular And Infection Microbiology
Medeiros, Fernanda Silva FS; da Silva, Mauro César MC; da Silva, Neila Caroline Henrique NCH; Gomes, Thailany Thays TT; Gomes, Renan Garcia RG; Paiva, Larissa Albuquerque LA; Dos Santos Gomes, Fabiana Oliveira FO; Peixoto, Christina Alves CA; Rygaard, Maria Carolina Valença MCV; Welkovic, Stefan S; Menezes, Maria Luiza Bezerra MLB; Donadi, Eduardo Antônio EA; Lucena-Silva, Norma N
Publication Date: 2022

Variant appearance in text: TAP1: Asp697Gly; rs1135216
PubMed Link: 36619767
Variant Present in the following documents:
  • Main text
  • fcimb-12-979800.pdf
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs1135216
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: TAP1: 2090A>G; Asp697Gly; rs1135216
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: TAP1: D697G
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
View BVdb publication page



Association between TAP gene polymorphisms and tuberculosis susceptibility in a Han Chinese population in Guangdong.

Molecular Genetics And Genomics : Mgg
Luo, Fang F; Zou, PinAng P; Liao, Yinqian Y; Luo, Jiaze J; Luo, Dan D; Hu, Kuan K; Zhang, KaiXuan K; Wang, BaoGuo B
Publication Date: 2022-05

Variant appearance in text: rs1135216
PubMed Link: 35325275
Variant Present in the following documents:
  • Main text
  • 438_2022_Article_1885.pdf
View BVdb publication page



Variations in TAP1 and PSMB9 Genes Involved in Antigen Processing and Presentation Increase the Risk of Vitiligo in the Saudi Community.

International Journal Of General Medicine
Mufti, Ahmad H AH; AlJahdali, Imad A IA; Elhawary, Nasser A NA; Ekram, Samar N SN; Abumansour, Iman I; Sindi, Ikhlas A IA; Naffadi, Hind H; Elhawary, Ezzeldin N EN; Alyamani, Najiah M NM; Alghamdi, Ghydda G; Alosaimi, Wafaa W; Rawas, Ghufran G; Alharbi, Amaal A; Tayeb, Mohammed T MT
Publication Date: 2021

Variant appearance in text: rs1135216
PubMed Link: 34984025
Variant Present in the following documents:
  • Main text
  • ijgm-14-10031.pdf
View BVdb publication page



MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Frontiers In Immunology
Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2021

Variant appearance in text: rs1135216
PubMed Link: 34650566
Variant Present in the following documents:
  • Table_3.xlsx, sheet 4
  • Table_3.xlsx, sheet 3
  • Table_3.xlsx, sheet 1
  • Table_3.xlsx, sheet 5
  • Table_3.xlsx, sheet 2
View BVdb publication page



Association of TAP1 1177A>G and 2090A>G gene polymorphisms with latent tuberculosis infections in sheltered populations, in the metropolitan area of Guadalajara, Mexico: a pilot study.

Revista Do Instituto De Medicina Tropical De Sao Paulo
Cazarez-Navarro, Gerardo G; Palomares-Marín, Jaime J; Rodríguez-Preciado, Sergio Yair SY; Pereira-Suárez, Ana Laura AL; Martínez-López, Erika E; Bacilio-Medrano, Eva Adriana EA; Huerta-Olvera, Selene S; Hernández-Cañaveral, Iván Isidro II
Publication Date: 2021

Variant appearance in text: rs1135216
PubMed Link: 34231820
Variant Present in the following documents:
  • Main text
  • 1678-9946-rimtsp-63-S1678-9946202163055.pdf
View BVdb publication page



Polymorphisms of Antigen-Presenting Machinery Genes in Non-Small Cell Lung Cancer: Different Impact on Disease Risk and Clinical Parameters in Smokers and Never-Smokers.

Frontiers In Immunology
Wiśniewski, Andrzej A; Sobczyński, Maciej M; Pawełczyk, Konrad K; Porębska, Irena I; Jasek, Monika M; Wagner, Marta M; Niepiekło-Miniewska, Wanda W; Kowal, Aneta A; Dubis, Joanna J; Jędruchniewicz, Natalia N; Kuśnierczyk, Piotr P
Publication Date: 2021

Variant appearance in text: TAP1: D697G; rs1135216
PubMed Link: 34149699
Variant Present in the following documents:
  • Main text
  • fimmu-12-664474.pdf
View BVdb publication page



Contribution of Antigen-Processing Machinery Genetic Polymorphisms to Atopic Dermatitis.

Life (Basel, Switzerland)
Niepiekło-Miniewska, Wanda W; Matusiak, Łukasz Ł; Narbutt, Joanna J; Lesiak, Alekandra A; Kuna, Piotr P; Wiśniewski, Andrzej A; Kuśnierczyk, Piotr P
Publication Date: 2021-04-10

Variant appearance in text: rs1135216
PubMed Link: 33920176
Variant Present in the following documents:
  • Main text
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: TAP1: Asp697Gly; rs1135216
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: TAP1: 2090A>G; D697G; rs1135216
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Associations of genetic variants at TAP1 and TAP2 with pulmonary tuberculosis risk among the Chinese population.

Epidemiology And Infection
Zhang, Mingwu M; Wang, Xiaomeng X; Zhu, Yelei Y; Chen, Songhua S; Chen, Bin B; Liu, Zhengwei Z
Publication Date: 2021-03-19

Variant appearance in text: rs1135216
PubMed Link: 33736739
Variant Present in the following documents:
  • Main text
  • S0950268821000613a.pdf
View BVdb publication page



Association between the TAP1 gene polymorphisms and recurrent respiratory papillomatosis in patients from Western Mexico: A pilot study.

Journal Of Clinical Laboratory Analysis
Palomares-Marin, Jaime J; Govea-Camacho, Luis Humberto LH; Araujo-Caballero, Vania V; Cazarez-Navarro, Gerardo G; Rodriguez-Preciado, Sergio Yair SY; Ortiz-Hernandez, Enrique E; Martinez-Lopez, Erika E; Muñoz-Valle, Jose Francisco JF; Hernandez-Cañaveral, Ivan Isidro II
Publication Date: 2021-04

Variant appearance in text: TAP1: 2090A>G; Asp697Gly; rs1135216
PubMed Link: 33507546
Variant Present in the following documents:
  • Main text
  • JCLA-35-e23712.pdf
View BVdb publication page



Evidence for altered host genetic factors in KSHV infection and KSHV-related disease development.

Reviews In Medical Virology
Blumenthal, Melissa J MJ; Cornejo Castro, Elena Maria EM; Whitby, Denise D; Katz, Arieh A AA; Schäfer, Georgia G
Publication Date: 2021-03

Variant appearance in text: TAP1: 2090A>G; rs1135216
PubMed Link: 33043529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: TAP1: D697G
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case-Control Study.

The Application Of Clinical Genetics
Al-Eitan, Laith N LN; Al Momani, Rawan O RO; Al Momani, Khalid K KK; Al Warawrah, Ahmad M AM; Aljamal, Hanan A HA; Alghamdi, Mansour A MA; Muhanna, Alsharif M AM; Al-Qarqaz, Firas A FA
Publication Date: 2019

Variant appearance in text: rs1135216
PubMed Link: 31819588
Variant Present in the following documents:
  • Main text
  • tacg-12-221.pdf
View BVdb publication page



Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Nature
Suzuki, Hiromichi H; Kumar, Sachin A SA; Shuai, Shimin S; Diaz-Navarro, Ander A; Gutierrez-Fernandez, Ana A; De Antonellis, Pasqualino P; Cavalli, Florence M G FMG; Juraschka, Kyle K; Farooq, Hamza H; Shibahara, Ichiyo I; Vladoiu, Maria C MC; Zhang, Jiao J; Abeysundara, Namal N; Przelicki, David D; Skowron, Patryk P; Gauer, Nicole N; Luu, Betty B; Daniels, Craig C; Wu, Xiaochong X; Forget, Antoine A; Momin, Ali A; Wang, Jun J; Dong, Weifan W; Kim, Seung-Ki SK; Grajkowska, Wieslawa A WA; Jouvet, Anne A; Fèvre-Montange, Michelle M; Garrè, Maria Luisa ML; Nageswara Rao, Amulya A AA; Giannini, Caterina C; Kros, Johan M JM; French, Pim J PJ; Jabado, Nada N; Ng, Ho-Keung HK; Poon, Wai Sang WS; Eberhart, Charles G CG; Pollack, Ian F IF; Olson, James M JM; Weiss, William A WA; Kumabe, Toshihiro T; López-Aguilar, Enrique E; Lach, Boleslaw B; Massimino, Maura M; Van Meir, Erwin G EG; Rubin, Joshua B JB; Vibhakar, Rajeev R; Chambless, Lola B LB; Kijima, Noriyuki N; Klekner, Almos A; Bognár, László L; Chan, Jennifer A JA; Faria, Claudia C CC; Ragoussis, Jiannis J; Pfister, Stefan M SM; Goldenberg, Anna A; Wechsler-Reya, Robert J RJ; Bailey, Swneke D SD; Garzia, Livia L; Morrissy, A Sorana AS; Marra, Marco A MA; Huang, Xi X; Malkin, David D; Ayrault, Olivier O; Ramaswamy, Vijay V; Puente, Xose S XS; Calarco, John A JA; Stein, Lincoln L; Taylor, Michael D MD
Publication Date: 2019-10

Variant appearance in text: TAP1: D697G
PubMed Link: 31664194
Variant Present in the following documents:
  • NIHMS1539056-supplement-2.xlsx, sheet 5
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: TAP1: 2090A>G; Asp697Gly; rs1135216
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: TAP1: D697G; rs1135216
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications
Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J
Publication Date: 2019-04-08

Variant appearance in text: TAP1: 2090A>G; D697G; rs1135216
PubMed Link: 30962452
Variant Present in the following documents:
  • 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: TAP1: D697G; rs1135216
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine
Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH
Publication Date: 2018-12

Variant appearance in text: rs1135216
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
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: TAP1: 2090A>G; Asp697Gly; rs1135216
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



ABC Transporters and Their Role in the Neoadjuvant Treatment of Esophageal Cancer.

International Journal Of Molecular Sciences
Vrana, David D; Hlavac, Viktor V; Brynychova, Veronika V; Vaclavikova, Radka R; Neoral, Cestmir C; Vrba, Jiri J; Aujesky, Rene R; Matzenauer, Marcel M; Melichar, Bohuslav B; Soucek, Pavel P
Publication Date: 2018-03-15

Variant appearance in text: rs1135216
PubMed Link: 29543757
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of TAP1 genetic polymorphisms with atopic diseases: asthma, rhinitis and dermatitis.

Oncotarget
Liu, Rongzeng R; Chen, Xiafei X; Qi, Jingjiao J
Publication Date: 2018-01-05

Variant appearance in text: rs1135216
PubMed Link: 29416713
Variant Present in the following documents:
  • Main text
  • oncotarget-09-1553.pdf
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: TAP1: D697G; rs1135216
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



A case-control study on association of proteasome subunit beta 8 (PSMB8) and transporter associated with antigen processing 1 (TAP1) polymorphisms and their transcript levels in vitiligo from Gujarat.

Plos One
Jadeja, Shahnawaz D SD; Mansuri, Mohmmad Shoab MS; Singh, Mala M; Dwivedi, Mitesh M; Laddha, Naresh C NC; Begum, Rasheedunnisa R
Publication Date: 2017

Variant appearance in text: rs1135216
PubMed Link: 28700671
Variant Present in the following documents:
  • Main text
  • pone.0180958.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1135216
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Cervical Carcinogenesis and Immune Response Gene Polymorphisms: A Review.

Journal Of Immunology Research
Mehta, Akash M AM; Mooij, Merel M; Branković, Ivan I; Ouburg, Sander S; Morré, Servaas A SA; Jordanova, Ekaterina S ES
Publication Date: 2017

Variant appearance in text: rs1135216
PubMed Link: 28280748
Variant Present in the following documents:
  • Main text
  • JIR2017-8913860.pdf
View BVdb publication page



Association Analysis of Proteasome Subunits and Transporter Associated with Antigen Processing on Chinese Patients with Parkinson's Disease.

Chinese Medical Journal
Mo, Ming-Shu MS; Huang, Wei W; Sun, Cong-Cong CC; Zhang, Li-Min LM; Cen, Luan L; Xiao, You-Sheng YS; Li, Guo-Fei GF; Yang, Xin-Ling XL; Qu, Shao-Gang SG; Xu, Ping-Yi PY
Publication Date: 2016-05-05

Variant appearance in text: rs1135216
PubMed Link: 27098790
Variant Present in the following documents:
  • CMJ-129-1053.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1135216
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TAP1: D697G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20

Variant appearance in text: TAP1: 2090A>G; D697G; rs1135216
PubMed Link: 26092435
Variant Present in the following documents:
  • 40246_2015_34_MOESM1_ESM.xlsx, sheet 2
  • 40246_2015_34_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Transporter TAP1-637G and immunoproteasome PSMB9-60H variants influence the risk of developing vitiligo in the Saudi population.

Disease Markers
Elhawary, Nasser Attia NA; Bogari, Neda N; Jiffri, Essam Hussien EH; Rashad, Mona M; Fatani, Abdulhamid A; Tayeb, Mohammed M
Publication Date: 2014

Variant appearance in text: rs1135216
PubMed Link: 25548428
Variant Present in the following documents:
  • Main text
  • DM2014-260732.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: TAP1: D697G; rs1135216
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: TAP1: D697G; rs1135216
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22
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SNP screening of central MHC-identified HLA-DMB as a candidate susceptibility gene for HIV-related Kaposi's sarcoma.

Genes And Immunity
Aissani, B B; Boehme, A K AK; Wiener, H W HW; Shrestha, S S; Jacobson, L P LP; Kaslow, R A RA
Publication Date: 2014-09

Variant appearance in text: TAP1: Asp697Gly
PubMed Link: 25008864
Variant Present in the following documents:
  • Main text
  • nihms602366.pdf
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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity
Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J
Publication Date: 2014

Variant appearance in text: rs1135216
PubMed Link: 24784026
Variant Present in the following documents:
  • NIHMS580846-supplement-1.xlsx, sheet 2
  • NIHMS580846-supplement-1.xlsx, sheet 3
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Association of TAP gene polymorphisms and risk of cervical intraepithelial neoplasia.

Disease Markers
Natter, Camilla C; Polterauer, Stephan S; Rahhal-Schupp, Jasmin J; Cacsire Castillo-Tong, Dan D; Pils, Sophie S; Speiser, Paul P; Zeillinger, Robert R; Heinze, Georg G; Grimm, Christoph C
Publication Date: 2013

Variant appearance in text: rs1135216
PubMed Link: 24288424
Variant Present in the following documents:
  • Main text
  • DM35-02-368732.pdf
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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ
Publication Date: 2013

Variant appearance in text: TAP1: 2090A>G; Asp697Gly; rs1135216
PubMed Link: 24109560
Variant Present in the following documents:
  • peerj-01-177-s010.xlsx, sheet 1
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Transplant rejection and risk: in search of the genetic dark matter.

Journal Of Gastrointestinal And Liver Diseases : Jgld
Oetting, William S WS; Jacobson, Pamela A PA; Israni, Ajay K AK
Publication Date: 2013-06

Variant appearance in text: TAP1: Asp697Gly
PubMed Link: 23799208
Variant Present in the following documents:
  • Main text
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Poor reproducibility of allergic rhinitis SNP associations.

Plos One
Nilsson, Daniel D; Andiappan, Anand Kumar AK; Halldén, Christer C; Tim, Chew Fook CF; Säll, Torbjörn T; Wang, De Yun de Y; Cardell, Lars-Olaf LO
Publication Date: 2013

Variant appearance in text: rs1135216
PubMed Link: 23382861
Variant Present in the following documents:
  • pone.0053975.s001.xls, sheet 1
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Association of LMP/TAP gene polymorphisms with tuberculosis susceptibility in Li population in China.

Plos One
Wang, Danmei D; Zhou, Yue Y; Ji, Limin L; He, Tong T; Lin, Feng F; Lin, Rong R; Lin, Tangchang T; Mo, Yanna Y
Publication Date: 2012

Variant appearance in text: rs1135216
PubMed Link: 22427944
Variant Present in the following documents:
  • Main text
  • pone.0033051.pdf
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Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.

The Journal Of Investigative Dermatology
Birlea, Stanca A SA; Jin, Ying Y; Bennett, Dorothy C DC; Herbstman, Deborah M DM; Wallace, Margaret R MR; McCormack, Wayne T WT; Kemp, E Helen EH; Gawkrodger, David J DJ; Weetman, Anthony P AP; Picardo, Mauro M; Leone, Giovanni G; Taïeb, Alain A; Jouary, Thomas T; Ezzedine, Khaled K; van Geel, Nanja N; Lambert, Jo J; Overbeck, Andreas A; Fain, Pamela R PR; Spritz, Richard A RA
Publication Date: 2011-02

Variant appearance in text: rs1135216
PubMed Link: 21085187
Variant Present in the following documents:
  • Main text
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