HJURP c.226G>C ;(p.E76Q)

Variant ID: 2-234761225-C-G

NM_018410.3(HJURP):c.226G>C;(p.E76Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs2286430
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



A candidate gene identification strategy utilizing mouse to human big-data mining: "3R-tenet" in COPD genetic research.

Respiratory Research
Vishweswaraiah, Sangeetha S; George, Leema L; Purushothaman, Natarajan N; Ganguly, Koustav K
Publication Date: 2018-06-06

Variant appearance in text: rs2286430
PubMed Link: 29871630
Variant Present in the following documents:
  • Main text
  • 12931_2018_Article_795.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: HJURP: E76Q
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



A Non-Synonymous Single Nucleotide Polymorphism in the HJURP Gene Associated with Susceptibility to Hepatocellular Carcinoma among Chinese.

Plos One
Huang, Wenfeng W; Zhang, Hongxing H; Hao, Yumin Y; Xu, Xiaobing X; Zhai, Yun Y; Wang, Shaoxia S; Li, Yang Y; Ma, Fuchao F; Li, Yuanfeng Y; Wang, Zhifu Z; Zhang, Yang Y; Zhang, Xiumei X; Liang, Renxiang R; Wei, Zhongliang Z; Cui, Ying Y; Li, Yongqiang Y; Yu, Xinsen X; Ji, Hongzan H; He, Fuchu F; Xie, Weimin W; Zhou, Gangqiao G
Publication Date: 2016

Variant appearance in text: rs2286430
PubMed Link: 26863619
Variant Present in the following documents:
  • Main text
  • pone.0148618.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: rs2286430
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2286430
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page