HR c.730G>A ;(p.E244K)

Variant ID: 8-21985225-C-T

NM_005144.4(HR):c.730G>A;(p.E244K)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: HR: E244K; rs755471093
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: HR: E244K; rs755471093
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Pharmacogenetic Profiling in High-Risk Soft Tissue Sarcomas Treated with Neoadjuvant Chemotherapy.

Journal Of Personalized Medicine
Virgili Manrique, Anna C AC; Salazar, Juliana J; Arranz, María Jesús MJ; Bagué, Silvia S; Orellana, Ruth R; López-Pousa, Antonio A; Cerdà, Paula P; Gracia, Isidre I; Majercakova, Katarina K; Peiró, Ana A; Trullols, Laura L; Fernández, Manuel M; Valverde, Sandra S; Quintana, María Jesús MJ; Bell, Olga O; Artigas-Baleri, Alícia A; Sebio, Ana A
Publication Date: 2022-04-11

Variant appearance in text: HR: 730G>A
PubMed Link: 35455734
Variant Present in the following documents:
  • jpm-12-00618.pdf
View BVdb publication page



Genetic Variation of Multiple Serotypes of Enteroviruses Associated with Hand, Foot and Mouth Disease in Southern China.

Virologica Sinica
Zhou, Yonghong Y; Van Tan, Le L; Luo, Kaiwei K; Liao, Qiaohong Q; Wang, Lili L; Qiu, Qi Q; Zou, Gang G; Liu, Ping P; Anh, Nguyen To NT; Hong, Nguyen Thi Thu NTT; He, Min M; Wei, Xiaoman X; Yu, Shuanbao S; Lam, Tommy Tsan-Yuk TT; Cui, Jie J; van Doorn, H Rogier HR; Yu, Hongjie H
Publication Date: 2021-02

Variant appearance in text: HR: E244K
PubMed Link: 32725479
Variant Present in the following documents:
  • 12250_2020_Article_266.pdf
View BVdb publication page



The RNA binding protein Npl3 promotes resection of DNA double-strand breaks by regulating the levels of Exo1.

Nucleic Acids Research
Colombo, Chiara Vittoria CV; Trovesi, Camilla C; Menin, Luca L; Longhese, Maria Pia MP; Clerici, Michela M
Publication Date: 2017-06-20

Variant appearance in text: HR: E244K
PubMed Link: 28472517
Variant Present in the following documents:
  • Main text
  • gkx347.pdf
View BVdb publication page



The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: HR: E244K
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s008.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: HR: 730G>A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: HR: 730G>A; E244K
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Mutant DnaAs of Escherichia coli that are refractory to negative control.

Nucleic Acids Research
Chodavarapu, Sundari S; Felczak, Magdalena M MM; Simmons, Lyle A LA; Murillo, Alec A; Kaguni, Jon M JM
Publication Date: 2013-12

Variant appearance in text: HR: E244K
PubMed Link: 23990329
Variant Present in the following documents:
  • Main text
  • gkt774.pdf
View BVdb publication page