APC c.3313_3314delinsTA ;(p.R1105*)

Variant ID: 5-112174604-CG-TA

NM_000038.5(APC):c.3313_3314delinsTA;(p.R1105*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


In-depth characterization of intratumoral heterogeneity in refractory B-cell non-Hodgkin lymphoma through the lens of a Research Autopsy Program.

Haematologica
Isaev, Keren K; Liu, Ting T; Bakhtiari, Mehran M; Tong, Kit K; Goswami, Rashmi R; Lam, Bernard B; Lungu, Ilinca I; Krzyzanowski, Paul M PM; Oza, Amit A; Dhani, Neesha N; Prica, Anca A; Crump, Michael M; Kridel, Robert R
Publication Date: 2022-06-23

Variant appearance in text: APC: R1105X
PubMed Link: 35734926
Variant Present in the following documents:
  • 2022_280900_ISAEV_TABS3_SUPPL.xlsx, sheet 1
  • 2022_280900_ISAEV_TABS4_SUPPL.xlsx, sheet 2
View BVdb publication page



Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Nature Immunology
Kong, Xiao-Fei XF; Martinez-Barricarte, Ruben R; Kennedy, James J; Mele, Federico F; Lazarov, Tomi T; Deenick, Elissa K EK; Ma, Cindy S CS; Breton, Gaëlle G; Lucero, Kimberly B KB; Langlais, David D; Bousfiha, Aziz A; Aytekin, Caner C; Markle, Janet J; Trouillet, Céline C; Jabot-Hanin, Fabienne F; Arlehamn, Cecilia S Lindestam CSL; Rao, Geetha G; Picard, Capucine C; Lasseau, Théo T; Latorre, Daniela D; Hambleton, Sophie S; Deswarte, Caroline C; Itan, Yuval Y; Abarca, Katia K; Moraes-Vasconcelos, Dewton D; Ailal, Fatima F; Ikinciogullari, Aydan A; Dogu, Figen F; Benhsaien, Ibtihal I; Sette, Alessandro A; Abel, Laurent L; Boisson-Dupuis, Stéphanie S; Schröder, Bernd B; Nussenzweig, Michel C MC; Liu, Kang K; Geissmann, Frédéric F; Tangye, Stuart G SG; Gros, Philippe P; Sallusto, Federica F; Bustamante, Jacinta J; Casanova, Jean-Laurent JL
Publication Date: 2018-09

Variant appearance in text: APC: R1105X
PubMed Link: 30127434
Variant Present in the following documents:
  • Main text
  • emss-78488.pdf
  • NIHMS78488-supplement-Reporting_Summary.pdf
View BVdb publication page