Bibliome.ai browser hg19
Search
About
Stats
FAQ
POLE c.2755C>T ;(p.L919F)
Variant ID: 12-133238222-G-A
NM_006231.2(
POLE
):c.2755C>T;(p.L919F)
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:
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: L919F
PubMed Link:
33384420
Variant Present in the following documents:
Main text
41598_2020_Article_78370.pdf
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: L919F
PubMed Link:
31034466
Variant Present in the following documents:
pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page