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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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