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RARA c.512A>G ;(p.K171R)
Variant ID: 17-38508204-A-G
NM_000964.3(
RARA
):c.512A>G;(p.K171R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Retinoid receptor turnover mediated by sumoylation, ubiquitination and the valosin-containing protein is disrupted in glioblastoma.
Scientific Reports
Rodriguez, Virginia V; Bailey, Rolanda R; Larion, Mioara M; Gilbert, Mark R MR
Publication Date: 2019-11-07
Variant appearance in text: RARA: K171R
PubMed Link:
31700049
Variant Present in the following documents:
Main text
41598_2019_Article_52696.pdf
41598_2019_52696_MOESM1_ESM.pdf
View BVdb publication page
Systematic Analysis of the Genetic Variability That Impacts SUMO Conjugation and Their Involvement in Human Diseases.
Scientific Reports
Xu, Hao-Dong HD; Shi, Shao-Ping SP; Chen, Xiang X; Qiu, Jian-Ding JD
Publication Date: 2015-07-08
Variant appearance in text: RARA: Lys171Arg
PubMed Link:
26154679
Variant Present in the following documents:
srep10900.pdf
View BVdb publication page
Small ubiquitin-like modifier-2 modification of retinoic acid receptor-alpha regulates its subcellular localization and transcriptional activity.
Endocrinology
Zhu, Li L; Santos, Nadine C NC; Kim, Kwan Hee KH
Publication Date: 2009-12
Variant appearance in text: RARA: K171R
PubMed Link:
19850744
Variant Present in the following documents:
Main text
View BVdb publication page