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TP53 c.994_995delinsGC ;(p.I332A)
Variant ID: 17-7574032-AT-GC
NM_000546.5(
TP53
):c.994_995delinsGC;(p.I332A)
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:
Evidence of a structural and functional ammonium transporter RhBG·anion exchanger 1·ankyrin-G complex in kidney epithelial cells.
The Journal Of Biological Chemistry
Genetet, Sandrine S; Ripoche, Pierre P; Le Van Kim, Caroline C; Colin, Yves Y; Lopez, Claude C
Publication Date: 2015-03-13
Variant appearance in text: p53: I332A
PubMed Link:
25616663
Variant Present in the following documents:
Main text
View BVdb publication page
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28
Variant appearance in text: TP53: I332A
PubMed Link:
25348012
Variant Present in the following documents:
13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
The p53 isoforms are differentially modified by Mdm2.
Cell Cycle (Georgetown, Tex.)
Camus, Suzanne S; Ménendez, Sergio S; Fernandes, Kenneth K; Kua, Nelly N; Liu, Geng G; Xirodimas, Dimitris P DP; Lane, David P DP; Bourdon, Jean-Christophe JC
Publication Date: 2012-04-15
Variant appearance in text: p53: I332A
PubMed Link:
22487680
Variant Present in the following documents:
Main text
View BVdb publication page
Parallel analysis of tetramerization domain mutants of the human p53 protein using PCR colonies.
Genomic Medicine
Merritt, Joshua J; Roberts, Kim G KG; Butz, James A JA; Edwards, Jeremy S JS
Publication Date: 2007
Variant appearance in text: p53: Ile332Ala
PubMed Link:
18923936
Variant Present in the following documents:
Main text
View BVdb publication page