POLE c.4477G>A ;(p.A1493T)

Variant ID: 12-133219884-C-T

NM_006231.2(POLE):c.4477G>A;(p.A1493T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.

Frontiers In Genetics
Jiang, Miao M; Jia, Yongliang Y; Han, Jinming J; Shi, Jianxiang J; Su, Chang C; Zhang, Rui R; Xing, Menglu M; Jin, Shuiling S; Zong, Hong H
Publication Date: 2022

Variant appearance in text: POLE: 4477G>A; A1493T
PubMed Link: 36479248
Variant Present in the following documents:
  • Main text
  • fgene-13-963964.pdf
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: POLE: 4477G>A
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Molecular Genetics & Genomic Medicine
Dell'Elice, Anastasia A; Cini, Giulia G; Fornasarig, Mara M; Armelao, Franco F; Barana, Daniela D; Bianchi, Francesca F; Casalis Cavalchini, Guido Claudio GC; Maffè, Antonella A; Mammi, Isabella I; Pedroni, Monica M; Percesepe, Antonio A; Sorrentini, Italo I; Tibiletti, Mariagrazia M; Maestro, Roberta R; Quaia, Michele M; Viel, Alessandra A
Publication Date: 2021-12

Variant appearance in text: POLE: 4477G>A; Ala1493Thr
PubMed Link: 34704405
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1831.pdf
View BVdb publication page



Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Molecular Genetics & Genomic Medicine
Dell'Elice, Anastasia A; Cini, Giulia G; Fornasarig, Mara M; Armelao, Franco F; Barana, Daniela D; Bianchi, Francesca F; Casalis Cavalchini, Guido Claudio GC; Maffè, Antonella A; Mammi, Isabella I; Pedroni, Monica M; Percesepe, Antonio A; Sorrentini, Italo I; Tibiletti, Mariagrazia M; Maestro, Roberta R; Quaia, Michele M; Viel, Alessandra A
Publication Date: 2021-10-26

Variant appearance in text: POLE: 4477G>A; Ala1493Thr
PubMed Link: 34704405
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1831.pdf
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: 4477G>A; A1493T; rs748522633
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page