PKD1 c.788C>T ;(p.T263I)

Variant ID: 16-2168205-G-A

NM_001009944.2(PKD1):c.788C>T;(p.T263I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: PKD1: 788C>T; Thr263Ile
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



Clonal evolution in diffuse large B-cell lymphoma with central nervous system recurrence.

Esmo Open
Magnes, T T; Wagner, S S; Thorner, A R AR; Neureiter, D D; Klieser, E E; Rinnerthaler, G G; Weiss, L L; Huemer, F F; Zaborsky, N N; Steiner, M M; Weis, S S; Greil, R R; Egle, A A; Melchardt, T T
Publication Date: 2021-02

Variant appearance in text: PKD1: 788C>T; T263I
PubMed Link: 33399078
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page