APC c.3949G>A ;(p.E1317K)

Variant ID: 5-112175240-G-A

NM_000038.5(APC):c.3949G>A;(p.E1317K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal
Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-07-04

Variant appearance in text: APC: E1317K
PubMed Link: 35788129
Variant Present in the following documents:
  • 41408_2022_699_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells.

Bmc Cancer
Yedid, Nofar N; Kalma, Yael Y; Malcov, Mira M; Amit, Ami A; Kariv, Revital R; Caspi, Michal M; Rosin-Arbesfeld, Rina R; Ben-Yosef, Dalit D
Publication Date: 2016-12-23

Variant appearance in text: APC: 3949G>A
PubMed Link: 28010732
Variant Present in the following documents:
  • Main text
  • 12885_2016_Article_2809.pdf
View BVdb publication page