CDKN2A c.330G>C ;(p.W110C)

Variant ID: 9-21971028-C-G

NM_000077.4(CDKN2A):c.330G>C;(p.W110C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.

Acta Dermato-Venereologica
Karagianni, Fani F; Njauw, Ching-Ni CN; Kypreou, Katerina P KP; Stergiopoulou, Aravela A; Plaka, Michaela M; Polydorou, Dorothea D; Chasapi, Vasiliki V; Pappas, Leontios L; Stratigos, Ioannis A IA; Champsas, Gregory G; Panagiotou, Peter P; Gogas, Helen H; Evangelou, Evangelos E; Tsao, Hensin H; Stratigos, Alexander J AJ; Stefanaki, Irene I
Publication Date: 2018-10-10

Variant appearance in text: CDKN2A: 330G>C
PubMed Link: 29774366
Variant Present in the following documents:
  • Main text
  • nihms-1016697.pdf
View BVdb publication page



Selective identification of somatic mutations in pancreatic cancer cells through a combination of next-generation sequencing of plasma DNA using molecular barcodes and a bioinformatic variant filter.

Plos One
Kukita, Yoji Y; Ohkawa, Kazuyoshi K; Takada, Ryoji R; Uehara, Hiroyuki H; Katayama, Kazuhiro K; Kato, Kikuya K
Publication Date: 2018

Variant appearance in text: CDKN2A: W110C
PubMed Link: 29451897
Variant Present in the following documents:
  • pone.0192611.s007.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CDKN2A: 330G>C; W110C
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: CDKN2A: W110C
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups.

Nature Communications
,
Publication Date: 2013

Variant appearance in text: CDKN2A: W110C
PubMed Link: 24292195
Variant Present in the following documents:
  • ncomms3873-s2.xls, sheet 1
View BVdb publication page