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POLE c.3853C>A ;(p.Q1285K)
Variant ID: 12-133226044-G-T
NM_006231.2(
POLE
):c.3853C>A;(p.Q1285K)
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:
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: Q1285K
PubMed Link:
34586735
Variant Present in the following documents:
CTM2-11-e524-s001.xlsx, sheet 6
CTM2-11-e524-s001.xlsx, sheet 2
View BVdb publication page
Genomic profile of MYCN non-amplified neuroblastoma and potential for immunotherapeutic strategies in neuroblastoma.
Bmc Medical Genomics
Lee, Eunjin E; Lee, Ji Won JW; Lee, Boram B; Park, Kyunghee K; Shim, Joonho J; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Sung, Ki Woong KW; Park, Woong-Yang WY
Publication Date: 2020-11-10
Variant appearance in text: POLE: Q1285K
PubMed Link:
33172452
Variant Present in the following documents:
Main text
12920_2020_Article_819.pdf
View BVdb publication page