Bibliome.ai browser hg19
Search
About
Stats
FAQ
POLE c.6157G>A ;(p.D2053N)
Variant ID: 12-133209074-C-T
NM_006231.2(
POLE
):c.6157G>A;(p.D2053N)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.
Cancers
Soares de Lima, Yasmin Y; Arnau-Collell, Coral C; Díaz-Gay, Marcos M; Bonjoch, Laia L; Franch-Expósito, Sebastià S; Muñoz, Jenifer J; Moreira, Leticia L; Ocaña, Teresa T; Cuatrecasas, Miriam M; Herrera-Pariente, Cristina C; Carballal, Sabela S; Moreno, Lorena L; Díaz de Bustamante, Aránzazu A; Castells, Antoni A; Bujanda, Luis L; Cubiella, Joaquín J; Rodríguez-Alcalde, Daniel D; Balaguer, Francesc F; Castellví-Bel, Sergi S
Publication Date: 2021-02-23
Variant appearance in text: POLE: 6157G>A
PubMed Link:
33672345
Variant Present in the following documents:
Main text
cancers-13-00929.pdf
View BVdb publication page