TG c.5048G>C ;(p.G1683A)

Variant ID: 8-133953602-G-C

NM_003235.4(TG):c.5048G>C;(p.G1683A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020

Variant appearance in text: TG: G1683A
PubMed Link: 32904945
Variant Present in the following documents:
  • vdaa088_suppl_supplementary_tables.xlsx, sheet 2
View BVdb publication page



GGA1 regulates signal-dependent sorting of BACE1 to recycling endosomes, which moderates Aβ production.

Molecular Biology Of The Cell
Toh, Wei Hong WH; Chia, Pei Zhi Cheryl PZC; Hossain, Mohammed Iqbal MI; Gleeson, Paul A PA
Publication Date: 2018-01-15

Variant appearance in text: TGN: g1683a
PubMed Link: 29142073
Variant Present in the following documents:
  • Main text
  • mbc-29-191.pdf
View BVdb publication page