TSC2 c.5024C>G ;(p.P1675R)

Variant ID: 16-2137898-C-G

NM_000548.3(TSC2):c.5024C>G;(p.P1675R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Adib, Elio E; Klonowska, Katarzyna K; Giannikou, Krinio K; Do, Khanh T KT; Pruitt-Thompson, Solida S; Bhushan, Ketki K; Milstein, Matthew I MI; Hedglin, Jennifer J; Kargus, Katherine E KE; Sholl, Lynette M LM; Tsuji, Junko J; Hyman, David M DM; Sisk, Anne A; Shapiro, Geoffrey I GI; Vargas, Hebert A HA; Harding, James J JJ; Voss, Martin H MH; Iyer, Gopa G; Kwiatkowski, David J DJ
Publication Date: 2021-07-15

Variant appearance in text: TSC2: 5024C>G; Pro1675Arg
PubMed Link: 33727259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology
Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G
Publication Date: 2021-01-22

Variant appearance in text: TSC2: P1675R
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page