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POLE c.6001del ;(p.S2001Qfs*11)
Variant ID: 12-133210774-GA-G
NM_006231.2(
POLE
):c.6001del;(p.S2001Qfs*11)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.
Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10
Variant appearance in text: POLE: 6001delT; Ser2001fs
PubMed Link:
35012638
Variant Present in the following documents:
13073_2021_990_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.
Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10
Variant appearance in text: POLE: 6001delT; Ser2001fs
PubMed Link:
35012638
Variant Present in the following documents:
13073_2021_990_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page