TG c.296A>T ;(p.Q99L)

Variant ID: 8-133883614-A-T

NM_003235.4(TG):c.296A>T;(p.Q99L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 296A>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rag GTPases and phosphatidylinositol 3-phosphate mediate recruitment of the AP-5/SPG11/SPG15 complex.

The Journal Of Cell Biology
Hirst, Jennifer J; Hesketh, Geoffrey G GG; Gingras, Anne-Claude AC; Robinson, Margaret S MS
Publication Date: 2021-02-01

Variant appearance in text: TGN: Q99L
PubMed Link: 33464297
Variant Present in the following documents:
  • Main text
  • JCB_202002075.pdf
View BVdb publication page



An mTORC1-to-CDK1 Switch Maintains Autophagy Suppression during Mitosis.

Molecular Cell
Odle, Richard I RI; Walker, Simon A SA; Oxley, David D; Kidger, Andrew M AM; Balmanno, Kathryn K; Gilley, Rebecca R; Okkenhaug, Hanneke H; Florey, Oliver O; Ktistakis, Nicholas T NT; Cook, Simon J SJ
Publication Date: 2020-01-16

Variant appearance in text: TG: Q99L
PubMed Link: 31733992
Variant Present in the following documents:
  • Main text
  • mmc6.pdf
View BVdb publication page



Transcriptional regulation of autophagy-lysosomal function in BRAF-driven melanoma progression and chemoresistance.

Nature Communications
Li, Shun S; Song, Ying Y; Quach, Christine C; Guo, Hongrui H; Jang, Gyu-Beom GB; Maazi, Hadi H; Zhao, Shihui S; Sands, Nathaniel A NA; Liu, Qingsong Q; In, Gino K GK; Peng, David D; Yuan, Weiming W; Machida, Keigo K; Yu, Min M; Akbari, Omid O; Hagiya, Ashley A; Yang, Yongfei Y; Punj, Vasu V; Tang, Liling L; Liang, Chengyu C
Publication Date: 2019-04-12

Variant appearance in text: TG: Q99L
PubMed Link: 30979895
Variant Present in the following documents:
  • 41467_2019_Article_9634.pdf
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: TG: Q99L
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 6
View BVdb publication page