VCAN c.9075G>C ;(p.T3025=)

Variant ID: 5-82837897-G-C

NM_004385.4(VCAN):c.9075G>C;(p.T3025=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: VCAN: T3025T; rs113014073
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Regulatory RNA binding proteins contribute to the transcriptome-wide splicing alterations in human cellular senescence.

Aging
Dong, Qiongye Q; Wei, Lei L; Zhang, Michael Q MQ; Wang, Xiaowo X
Publication Date: 2018-06-24

Variant appearance in text: VCAN: T3025T; rs113014073
PubMed Link: 29936497
Variant Present in the following documents:
  • aging-10-101485-s002.xlsx, sheet 10
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: VCAN: T3025T; rs113014073
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



A family with Wagner syndrome with uveitis and a new versican mutation.

Molecular Vision
Rothschild, Pierre-Raphaël PR; Brézin, Antoine P AP; Nedelec, Brigitte B; Burin des Roziers, Cyril C; Ghiotti, Tiffany T; Orhant, Lucie L; Boimard, Mathieu M; Valleix, Sophie S
Publication Date: 2013

Variant appearance in text: VCAN: T3025T; rs113014073
PubMed Link: 24174867
Variant Present in the following documents:
  • Main text
  • mv-v19-2040.pdf
View BVdb publication page