POLE c.4886C>T ;(p.A1629V)

Variant ID: 12-133219158-G-A

NM_006231.2(POLE):c.4886C>T;(p.A1629V)

This variant was identified in 2 publications

View GRCh38 version.




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: 4886C>T; Ala1629Val
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genomics, Morphoproteomics, and Treatment Patterns of Patients with Alveolar Soft Part Sarcoma and Response to Multiple Experimental Therapies.

Molecular Cancer Therapeutics
Groisberg, Roman R; Roszik, Jason J; Conley, Anthony P AP; Lazar, Alexander J AJ; Portal, Daniella E DE; Hong, David S DS; Naing, Aung A; Herzog, Cynthia E CE; Somaiah, Neeta N; Zarzour, Maria A MA; Patel, Shreyaskumar S; Brown, Robert E RE; Subbiah, Vivek V
Publication Date: 2020-05

Variant appearance in text: POLE: A1629V
PubMed Link: 32127467
Variant Present in the following documents:
  • Main text
View BVdb publication page