QPCT c.160C>T ;(p.R54W)

Variant ID: 2-37579971-C-T

NM_012413.3(QPCT):c.160C>T;(p.R54W)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


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: QPCT: R54W
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



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: QPCT: R54W; rs2255991
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2255991
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.

Nature Communications
Yin, Xianyong X; Chan, Lap Sum LS; Bose, Debraj D; Jackson, Anne U AU; VandeHaar, Peter P; Locke, Adam E AE; Fuchsberger, Christian C; Stringham, Heather M HM; Welch, Ryan R; Yu, Ketian K; Fernandes Silva, Lilian L; Service, Susan K SK; Zhang, Daiwei D; Hector, Emily C EC; Young, Erica E; Ganel, Liron L; Das, Indraniel I; Abel, Haley H; Erdos, Michael R MR; Bonnycastle, Lori L LL; Kuusisto, Johanna J; Stitziel, Nathan O NO; Hall, Ira M IM; Wagner, Gregory R GR; , ; Kang, Jian J; Morrison, Jean J; Burant, Charles F CF; Collins, Francis S FS; Ripatti, Samuli S; Palotie, Aarno A; Freimer, Nelson B NB; Mohlke, Karen L KL; Scott, Laura J LJ; Wen, Xiaoquan X; Fauman, Eric B EB; Laakso, Markku M; Boehnke, Michael M
Publication Date: 2022-03-28

Variant appearance in text: QPCT: Arg54Trp; rs2255991
PubMed Link: 35347128
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29143.pdf
View BVdb publication page



Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: QPCT: R54W
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
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: QPCT: R54W; rs2255991
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International
Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2020

Variant appearance in text: QPCT: R54W; rs2255991
PubMed Link: 32624706
Variant Present in the following documents:
  • 12935_2020_1373_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: QPCT: R54W; rs2255991
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3/phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude.

Disease Markers
Gesang, Luobu L; Gusang, Lamu L; Dawa, Ciren C; Gesang, Gawa G; Li, Kang K
Publication Date: 2019

Variant appearance in text: QPCT: R54W
PubMed Link: 31827636
Variant Present in the following documents:
  • 5946461.f1.xlsx, sheet 1
View BVdb publication page



Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports
Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R
Publication Date: 2019-06-04

Variant appearance in text: QPCT: R54W; rs2255991
PubMed Link: 31164688
Variant Present in the following documents:
  • 41598_2019_44143_MOESM2_ESM.xls, sheet 1
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: rs2255991
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: QPCT: R54W; rs2255991
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.

Plos One
Chen, Jian J; Raju, Gottumukkala S GS; Jogunoori, Wilma W; Menon, Vipin V; Majumdar, Avijit A; Chen, Jiun-Sheng JS; Gi, Young Jin YJ; Jeong, Yun Seong YS; Phan, Liem L; Belkin, Mitchell M; Gu, Shoujun S; Kundra, Suchin S; Mistry, Nipun A NA; Zhang, Jianping J; Su, Xiaoping X; Li, Shulin S; Lin, Sue-Hwa SH; Javle, Milind M; McMurray, John S JS; Rahlfs, Thomas F TF; Mishra, Bibhuti B; White, Jon J; Rashid, Asif A; Beauchemin, Nicole N; Weston, Brian R BR; Shafi, Mehnaz A MA; Stroehlein, John R JR; Davila, Marta M; Akbani, Rehan R; Weinstein, John N JN; Wu, Xifeng X; Mishra, Lopa L
Publication Date: 2016

Variant appearance in text: QPCT: R54W
PubMed Link: 27100181
Variant Present in the following documents:
  • pone.0153933.s001.xlsx, sheet 5
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: rs2255991
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: QPCT: R54W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: QPCT: R54W; rs2255991
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: QPCT: R54W; rs2255991
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Diet-induced gene expression of isolated pancreatic islets from a polygenic mouse model of the metabolic syndrome.

Diabetologia
Dreja, T T; Jovanovic, Z Z; Rasche, A A; Kluge, R R; Herwig, R R; Tung, Y C L YC; Joost, H G HG; Yeo, G S H GS; Al-Hasani, H H
Publication Date: 2010-02

Variant appearance in text: rs2255991
PubMed Link: 19902174
Variant Present in the following documents:
  • Main text
  • 125_2009_Article_1576.pdf
View BVdb publication page



Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse.

Genomics
Xiong, Qing Q; Jiao, Yan Y; Hasty, Karen A KA; Canale, S Terry ST; Stuart, John M JM; Beamer, Wesley G WG; Deng, Hong-Wen HW; Baylink, David D; Gu, Weikuan W
Publication Date: 2009-05

Variant appearance in text: QPCT: R54W; rs2255991
PubMed Link: 19150398
Variant Present in the following documents:
  • Main text
View BVdb publication page



Crystal structures of human glutaminyl cyclase, an enzyme responsible for protein N-terminal pyroglutamate formation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Kai-Fa KF; Liu, Yi-Liang YL; Cheng, Wei-Ju WJ; Ko, Tzu-Ping TP; Wang, Andrew H-J AH
Publication Date: 2005-09-13

Variant appearance in text: QPCT: R54W
PubMed Link: 16135565
Variant Present in the following documents:
  • Main text
View BVdb publication page