APC c.1852G>C ;(p.G618R)

Variant ID: 5-112170756-G-C

NM_000038.5(APC):c.1852G>C;(p.G618R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.

Iscience
Tominaga, Kana K; Tominaga, Naoomi N; Williams, Eric O EO; Rufibach, Laura L; Schöwel, Verena V; Spuler, Simone S; Viswanathan, Mohan M; Guarente, Leonard P LP
Publication Date: 2022-01-21

Variant appearance in text: APC: G618R
PubMed Link: 35028538
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: APC: Gly618Arg
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



High activation of STAT5A drives peripheral T-cell lymphoma and leukemia.

Haematologica
Maurer, Barbara B; Nivarthi, Harini H; Wingelhofer, Bettina B; Pham, Ha Thi Thanh HTT; Schlederer, Michaela M; Suske, Tobias T; Grausenburger, Reinhard R; Schiefer, Ana-Iris AI; Prchal-Murphy, Michaela M; Chen, Doris D; Winkler, Susanne S; Merkel, Olaf O; Kornauth, Christoph C; Hofbauer, Maximilian M; Hochgatterer, Birgit B; Hoermann, Gregor G; Hoelbl-Kovacic, Andrea A; Prochazkova, Jana J; Lobello, Cosimo C; Cumaraswamy, Abbarna A AA; Latzka, Johanna J; Kitzwögerer, Melitta M; Chott, Andreas A; Janikova, Andrea A; Pospíšilova, Šárka Š; Loizou, Joanna I JI; Kubicek, Stefan S; Valent, Peter P; Kolbe, Thomas T; Grebien, Florian F; Kenner, Lukas L; Gunning, Patrick T PT; Kralovics, Robert R; Herling, Marco M; Müller, Mathias M; Rülicke, Thomas T; Sexl, Veronika V; Moriggl, Richard R
Publication Date: 2020

Variant appearance in text: APC: G618R
PubMed Link: 31123029
Variant Present in the following documents:
  • 2019.216986.MAURER_SUPPL.pdf
View BVdb publication page