HK2 c.2531G>A ;(p.R844K)

Variant ID: 2-75116527-G-A

NM_000189.4(HK2):c.2531G>A;(p.R844K)

This variant was identified in 27 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: HK2: R844K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: HK2: R844K; rs2229629
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: HK2: R844K; rs2229629
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology
Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F
Publication Date: 2022-10-26

Variant appearance in text: HK2: R844K; rs2229629
PubMed Link: 36289370
Variant Present in the following documents:
  • 42003_2022_4073_MOESM4_ESM.xlsx, sheet 12
  • 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1
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: HK2: R844K
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: HK2: R844K; rs2229629
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Azathioprine antagonizes aberrantly elevated lipid metabolism and induces apoptosis in glioblastoma.

Iscience
Nam, Hye Jin HJ; Kim, Young Eun YE; Moon, Byoung-San BS; Kim, Hyun Young HY; Jung, Daeyoung D; Choi, Seungho S; Jang, Jeong Woon JW; Nam, Do-Hyun DH; Cho, Heeyeong H
Publication Date: 2021-03-19

Variant appearance in text: HK2: R844K
PubMed Link: 33748720
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports
Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T
Publication Date: 2020-10-14

Variant appearance in text: HK2: 2531G>A
PubMed Link: 33057101
Variant Present in the following documents:
  • 41598_2020_74374_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from Taiwan.

Journal Of Biomedical Science
Shan, Yan-Shen YS; Chen, Li-Tzong LT; Wu, Jin-Shang JS; Chang, Yin-Fan YF; Lee, Chih-Ting CT; Wu, Chih-Hsing CH; Chiang, Nai-Jung NJ; Huang, Hsin-En HE; Yen, Chia-Jui CJ; Chao, Ying-Jui YJ; Tsai, Hui-Jen HJ; Chen, Chiung-Yu CY; Kang, Jui-Wen JW; Kuo, Chin-Fu CF; Tsai, Chia-Rung CR; Weng, Ya-Ling YL; Yang, Han-Chien HC; Liu, Hui-Chin HC; Chang, Jeffrey S JS
Publication Date: 2020-05-26

Variant appearance in text: HK2: R844K
PubMed Link: 32456644
Variant Present in the following documents:
  • Main text
  • 12929_2020_Article_664.pdf
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: HK2: 2531G>A; Arg844Lys
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: HK2: R844K
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: rs2229629
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, 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: HK2: R844K; rs2229629
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Publication Date: 2016-06-23

Variant appearance in text: HK2: R844K
PubMed Link: 27334989
Variant Present in the following documents:
  • 13058_2016_727_MOESM3_ESM.xlsx, sheet 1
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: rs2229629
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: HK2: R844K
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: HK2: R844K; rs2229629
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: HK2: Arg844Lys
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s003.xls, sheet 3
  • pone.0109576.s002.xls, sheet 3
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: HK2: R844K; rs2229629
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Association of HK2 and NCK2 with normal tension glaucoma in the Japanese population.

Plos One
Shi, Dong D; Funayama, Tomoyo T; Mashima, Yukihiko Y; Takano, Yoshimasa Y; Shimizu, Ai A; Yamamoto, Kotaro K; Mengkegale, MinGe M; Miyazawa, Akiko A; Yasuda, Noriko N; Fukuchi, Takeo T; Abe, Haruki H; Ideta, Hidenao H; Nishida, Kohji K; Nakazawa, Toru T; Richards, Julia E JE; Fuse, Nobuo N
Publication Date: 2013

Variant appearance in text: HK2: Arg844Lys; rs2229629
PubMed Link: 23349798
Variant Present in the following documents:
  • Main text
  • pone.0054115.pdf
View BVdb publication page



The bidirectional interation between pancreatic cancer and diabetes.

World Journal Of Surgical Oncology
Li, Junhui J; Cao, Gang G; Ma, Qingyong Q; Liu, Han H; Li, Wei W; Han, Liang L
Publication Date: 2012-08-24

Variant appearance in text: HK2: R844K
PubMed Link: 22920886
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glucose metabolism gene variants modulate the risk of pancreatic cancer.

Cancer Prevention Research (Philadelphia, Pa.)
Dong, Xiaoqun X; Li, Yanan Y; Chang, Ping P; Tang, Hongwei H; Hess, Kenneth R KR; Abbruzzese, James L JL; Li, Donghui D
Publication Date: 2011-05

Variant appearance in text: HK2: R844K
PubMed Link: 21411499
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glucose metabolism gene polymorphisms and clinical outcome in pancreatic cancer.

Cancer
Dong, Xiaoqun X; Tang, Hongwei H; Hess, Kenneth R KR; Abbruzzese, James L JL; Li, Donghui D
Publication Date: 2011-02-01

Variant appearance in text: HK2: R844K; rs2229629
PubMed Link: 20845477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genes in glucose metabolism and association with spina bifida.

Reproductive Sciences (Thousand Oaks, Calif.)
Davidson, Christina M CM; Northrup, Hope H; King, Terri M TM; Fletcher, Jack M JM; Townsend, Irene I; Tyerman, Gayle H GH; Au, Kit Sing KS
Publication Date: 2008-01

Variant appearance in text: rs2229629
PubMed Link: 18212354
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.

Human Genomics
Savas, Sevtap S; Schmidt, Steffen S; Jarjanazi, Hamdi H; Ozcelik, Hilmi H
Publication Date: 2006-03

Variant appearance in text: HK2: R844K; rs2229629
PubMed Link: 16595073
Variant Present in the following documents:
  • Main text
  • 1479-7364-2-5-287.pdf
View BVdb publication page



Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.

Plos Biology
Barroso, Inês I; Luan, Jian'an J; Middelberg, Rita P S RP; Harding, Anne-Helen AH; Franks, Paul W PW; Jakes, Rupert W RW; Clayton, D D; Schafer, Alan J AJ; O'Rahilly, Stephen S; Wareham, Nicholas J NJ
Publication Date: 2003-10

Variant appearance in text: HK2: R844K
PubMed Link: 14551916
Variant Present in the following documents:
  • pbio.0000020.st001.xls, sheet 1
View BVdb publication page