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POLE c.73G>T ;(p.A25S)
Variant ID: 12-133257855-C-A
NM_006231.2(
POLE
):c.73G>T;(p.A25S)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Allele-specific genomic data elucidate the role of somatic gain and copy-number neutral loss of heterozygosity in cancer.
Cell Systems
Ciani, Yari Y; Fedrizzi, Tarcisio T; Prandi, Davide D; Lorenzin, Francesca F; Locallo, Alessio A; Gasperini, Paola P; Franceschini, Gian Marco GM; Benelli, Matteo M; Elemento, Olivier O; Fava, Luca L LL; Inga, Alberto A; Demichelis, Francesca F
Publication Date: 2022-02-16
Variant appearance in text: POLE: A25S
PubMed Link:
34731645
Variant Present in the following documents:
mmc2.xlsx, sheet 1
View BVdb publication page
Fast mutual exclusivity algorithm nominates potential synthetic lethal gene pairs through brute force matrix product computations.
Computational And Structural Biotechnology Journal
Fedrizzi, Tarcisio T; Ciani, Yari Y; Lorenzin, Francesca F; Cantore, Thomas T; Gasperini, Paola P; Demichelis, Francesca F
Publication Date: 2021
Variant appearance in text: POLE: A25S
PubMed Link:
34429855
Variant Present in the following documents:
mmc2.xlsx, sheet 2
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: POLE: 73G>T; Ala25Ser
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
Scientific Reports
Fransson, Susanne S; Martinez-Monleon, Angela A; Johansson, Mathias M; Sjöberg, Rose-Marie RM; Björklund, Caroline C; Ljungman, Gustaf G; Ek, Torben T; Kogner, Per P; Martinsson, Tommy T
Publication Date: 2020-12-31
Variant appearance in text: POLE: A25S
PubMed Link:
33384420
Variant Present in the following documents:
Main text
View BVdb publication page
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04
Variant appearance in text: POLE: A25S
PubMed Link:
31034466
Variant Present in the following documents:
pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page
Mutation Clusters from Cancer Exome.
Genes
Kakushadze, Zura Z; Yu, Willie W
Publication Date: 2017-08-15
Variant appearance in text: POLE: A25S
PubMed Link:
28809811
Variant Present in the following documents:
Main text
genes-08-00201.pdf
View BVdb publication page