APP c.212A>T ;(p.Q71L)

Variant ID: 21-27484309-T-A

NM_000484.3(APP):c.212A>T;(p.Q71L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Arf5 mediated regulation of mTORC1 at the plasma membrane.

Molecular Biology Of The Cell
Makhoul, Christian C; Houghton, Fiona J FJ; Hinde, Elizabeth E; Gleeson, Paul A PA
Publication Date: 2023-02-03

Variant appearance in text: APP: Q71L
PubMed Link: 36735494
Variant Present in the following documents:
  • mbc-34-ar23.pdf
View BVdb publication page



The many hats of transmembrane emp24 domain protein TMED9 in secretory pathway homeostasis.

Frontiers In Cell And Developmental Biology
Roberts, Benjamin S BS; Satpute-Krishnan, Prasanna P
Publication Date: 2022

Variant appearance in text: APP: Q71L
PubMed Link: 36733337
Variant Present in the following documents:
  • Main text
  • fcell-10-1096899.pdf
View BVdb publication page



Assembly of γ-secretase occurs through stable dimers after exit from the endoplasmic reticulum.

The Journal Of Cell Biology
Wouters, Rosanne R; Michiels, Christine C; Sannerud, Ragna R; Kleizen, Bertrand B; Dillen, Katleen K; Vermeire, Wendy W; Ayala, Abril Escamilla AE; Demedts, David D; Schekman, Randy R; Annaert, Wim W
Publication Date: 2021-09-06

Variant appearance in text: APP: Q71L
PubMed Link: 34292306
Variant Present in the following documents:
  • Main text
  • JCB_201911104.pdf
View BVdb publication page



Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization.

The Embo Journal
Chen, C D CD; Huff, M E ME; Matteson, J J; Page, L L; Phillips, R R; Kelly, J W JW; Balch, W E WE
Publication Date: 2001-11-15

Variant appearance in text: APP: Q71L
PubMed Link: 11707399
Variant Present in the following documents:
  • Main text
View BVdb publication page