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HJURP c.1646C>A ;(p.S549Y)
Variant ID: 2-234749780-G-T
NM_018410.3(
HJURP
):c.1646C>A;(p.S549Y)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Immunopeptidogenomics: Harnessing RNA-Seq to Illuminate the Dark Immunopeptidome.
Molecular & Cellular Proteomics : Mcp
Scull, Katherine E KE; Pandey, Kirti K; Ramarathinam, Sri H SH; Purcell, Anthony W AW
Publication Date: 2021-09-10
Variant appearance in text: rs3821238
PubMed Link:
34509645
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Immunopeptidogenomics: Harnessing RNA-Seq to Illuminate the Dark Immunopeptidome.
Molecular & Cellular Proteomics : Mcp
Scull, Katherine E KE; Pandey, Kirti K; Ramarathinam, Sri H SH; Purcell, Anthony W AW
Publication Date: 2021
Variant appearance in text: rs3821238
PubMed Link:
34509645
Variant Present in the following documents:
Main text
main.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: rs3821238
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.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: rs3821238
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: rs3821238
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page