POLE c.4942G>A ;(p.E1648K)

Variant ID: 12-133219102-C-T

NM_006231.2(POLE):c.4942G>A;(p.E1648K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Clinical And Translational Medicine
Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q
Publication Date: 2021-09

Variant appearance in text: POLE: E1648K
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
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: 4942G>A; Glu1648Lys; rs532781183
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma.

Frontiers In Oncology
Cao, Jian J; Yang, Chun-He CH; Han, Wei-Qing WQ; Xie, Yu Y; Liu, Zhi-Zhong ZZ; Jiang, Shu-Suan SS
Publication Date: 2021

Variant appearance in text: POLE: 4942G>A; E1648K
PubMed Link: 34150614
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer.

Journal Of Clinical Medicine
Casas-Arozamena, Carlos C; Díaz, Eva E; Moiola, Cristian Pablo CP; Alonso-Alconada, Lorena L; Ferreirós, Alba A; Abalo, Alicia A; Gil, Carlos López CL; Oltra, Sara S SS; de Santiago, Javier J; Cabrera, Silvia S; Sampayo, Victoria V; Bouso, Marta M; Arias, Efigenia E; Cueva, Juan J; Colas, Eva E; Vilar, Ana A; Gil-Moreno, Antonio A; Abal, Miguel M; Moreno-Bueno, Gema G; Muinelo-Romay, Laura L
Publication Date: 2020-02-21

Variant appearance in text: POLE: 4942G>A; Glu1648Lys
PubMed Link: 32098121
Variant Present in the following documents:
  • jcm-09-00585-s001.pdf
View BVdb publication page