POLE c.3008A>G ;(p.Y1003C)

Variant ID: 12-133237607-T-C

NM_006231.2(POLE):c.3008A>G;(p.Y1003C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: POLE: 3008A>G; Tyr1003Cys
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



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: Y1003C
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
  • CTM2-11-e524-s001.xlsx, sheet 6
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: POLE: Y1003C
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Tumor genomic alterations in severe-combined immunodeficiency bare-lymphocyte syndrome genes are associated with high mutational burden and disproportional neo-antigen rates.

Journal For Immunotherapy Of Cancer
Wang, Yu Y; Johnson, Douglas B DB; Lu, Steve S; Diaz, Luis A LA; Xu, Yaomin Y; Balko, Justin M JM
Publication Date: 2019-05-07

Variant appearance in text: POLE: Y1003C
PubMed Link: 31064401
Variant Present in the following documents:
  • 40425_2019_584_MOESM3_ESM.xls, sheet 1
View BVdb publication page