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RPS2 c.847C>T ;(p.Q283*)
Variant ID: 16-2012134-G-A
NM_002952.3(
RPS2
):c.847C>T;(p.Q283*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21
Variant appearance in text: RPS2: 847C>T; Gln283*
PubMed Link:
30464253
Variant Present in the following documents:
41598_2018_35506_MOESM5_ESM.xlsx, sheet 6
View BVdb publication page
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16
Variant appearance in text: RPS2: Q283X
PubMed Link:
25352556
Variant Present in the following documents:
supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 13
View BVdb publication page