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POLE c.806del ;(p.P269Lfs*26)
Variant ID: 12-133253234-AG-A
NM_006231.2(
POLE
):c.806del;(p.P269Lfs*26)
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:
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: 806delC; P269fs
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene.
Genetics And Molecular Biology
Rosa, Reginaldo Cruz Alves RCA; Yurchenko, Andrey A AA; Chahud, Fernando F; Ribeiro-Silva, Alfredo A; Brunaldi, Mariângela Ottoboni MO; Silva, Wilson Araújo WA; Kannouche, Patricia L PL; Nikolaev, Sergey S; Ferraz, Victor Evangelista de Faria VEF
Publication Date: 2020
Variant appearance in text: POLE: 806delC
PubMed Link:
33001133
Variant Present in the following documents:
Main text
1415-4757-GMB-43-4-e20200100.pdf
View BVdb publication page