POLE c.5940G>A ;(p.W1980*)

Variant ID: 12-133210836-C-T

NM_006231.2(POLE):c.5940G>A;(p.W1980*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.

Journal Of Medical Genetics
Nakano, Tomohiro T; Sasahara, Yoji Y; Kikuchi, Atsuo A; Moriya, Kunihiko K; Niizuma, Hidetaka H; Niihori, Tetsuya T; Shirota, Matsuyuki M; Funayama, Ryo R; Nakayama, Keiko K; Aoki, Yoko Y; Kure, Shigeo S
Publication Date: 2022-05-09

Variant appearance in text: POLE: 5940G>A
PubMed Link: 35534205
Variant Present in the following documents:
  • Main text
  • jmedgenet-2021-108300.pdf
View BVdb publication page



Recurrent oligodendroglioma with changed 1p/19q status.

Neuropathology : Official Journal Of The Japanese Society Of Neuropathology
Barresi, Valeria V; Mafficini, Andrea A; Calicchia, Martina M; Piredda, Maria Liliana ML; Musumeci, Angelo A; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2022-04

Variant appearance in text: POLE: W1980*
PubMed Link: 35144313
Variant Present in the following documents:
  • NEUP-42-160-s001.xlsx, sheet 1
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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: 5940G>A; W1980X
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.

Genes & Development
Parry, David A DA; Tamayo-Orrego, Lukas L; Carroll, Paula P; Marsh, Joseph A JA; Greene, Philip P; Murina, Olga O; Uggenti, Carolina C; Leitch, Andrea A; , ; Káposzta, Rita R; Merő, Gabriella G; Nagy, Andrea A; Orlik, Brigitta B; Kovács-Pászthy, Balázs B; Quigley, Alan J AJ; Riszter, Magdolna M; Rankin, Julia J; Reijns, Martin A M MAM; Szakszon, Katalin K; Jackson, Andrew P AP; ,
Publication Date: 2020-11-01

Variant appearance in text: POLE: 5940G>A; Trp1980Ter
PubMed Link: 33060134
Variant Present in the following documents:
  • supp_gad.340190.120_Supplemental_Table_S3.xlsx, sheet 1
View BVdb publication page



Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
Publication Date: 2021-05

Variant appearance in text: POLE: 5940G>A; W1980*
PubMed Link: 32546565
Variant Present in the following documents:
  • jmedgenet-2019-106739supp001.xlsx, sheet 4
View BVdb publication page



DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

American Journal Of Human Genetics
Logan, Clare V CV; Murray, Jennie E JE; Parry, David A DA; Robertson, Andrea A; Bellelli, Roberto R; Tarnauskaitė, Žygimantė Ž; Challis, Rachel R; Cleal, Louise L; Borel, Valerie V; Fluteau, Adeline A; Santoyo-Lopez, Javier J; , ; Aitman, Tim T; Barroso, Inês I; Basel, Donald D; Bicknell, Louise S LS; Goel, Himanshu H; Hu, Hao H; Huff, Chad C; Hutchison, Michele M; Joyce, Caroline C; Knox, Rachel R; Lacroix, Amy E AE; Langlois, Sylvie S; McCandless, Shawn S; McCarrier, Julie J; Metcalfe, Kay A KA; Morrissey, Rose R; Murphy, Nuala N; Netchine, Irène I; O'Connell, Susan M SM; Olney, Ann Haskins AH; Paria, Nandina N; Rosenfeld, Jill A JA; Sherlock, Mark M; Syverson, Erin E; White, Perrin C PC; Wise, Carol C; Yu, Yao Y; Zacharin, Margaret M; Banerjee, Indraneel I; Reijns, Martin M; Bober, Michael B MB; Semple, Robert K RK; Boulton, Simon J SJ; Rios, Jonathan J JJ; Jackson, Andrew P AP
Publication Date: 2018-12-06

Variant appearance in text: POLE: 5940G>A
PubMed Link: 30503519
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page