APC c.232_233delinsTT ;(p.D78F)

Variant ID: 5-112102897-GA-TT

NM_000038.5(APC):c.232_233delinsTT;(p.D78F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The disordered regions of the methyltransferase SETD2 govern its function by regulating its proteolysis and phase separation.

The Journal Of Biological Chemistry
Bhattacharya, Saikat S; Lange, Jeffrey J JJ; Levy, Michaella M; Florens, Laurence L; Washburn, Michael P MP; Workman, Jerry L JL
Publication Date: 2021-09

Variant appearance in text: APC: D78F
PubMed Link: 34391778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Microglia facilitate repair of demyelinated lesions via post-squalene sterol synthesis.

Nature Neuroscience
Berghoff, Stefan A SA; Spieth, Lena L; Sun, Ting T; Hosang, Leon L; Schlaphoff, Lennart L; Depp, Constanze C; Düking, Tim T; Winchenbach, Jan J; Neuber, Jonathan J; Ewers, David D; Scholz, Patricia P; van der Meer, Franziska F; Cantuti-Castelvetri, Ludovico L; Sasmita, Andrew O AO; Meschkat, Martin M; Ruhwedel, Torben T; Möbius, Wiebke W; Sankowski, Roman R; Prinz, Marco M; Huitinga, Inge I; Sereda, Michael W MW; Odoardi, Francesca F; Ischebeck, Till T; Simons, Mikael M; Stadelmann-Nessler, Christine C; Edgar, Julia M JM; Nave, Klaus-Armin KA; Saher, Gesine G
Publication Date: 2021-01

Variant appearance in text: APC: D78F
PubMed Link: 33349711
Variant Present in the following documents:
  • Main text
View BVdb publication page