HR c.733C>T ;(p.R245C)

Variant ID: 8-21985222-G-A

NM_005144.4(HR):c.733C>T;(p.R245C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model.

Cancer Research
Jeffers, John R JR; Pinto, Emilia M EM; Rehg, Jerold E JE; Clay, Michael R MR; Wang, Jinling J; Neale, Geoffrey G; Heath, Richard J RJ; Lozano, Guillermina G; Lalli, Enzo E; Figueiredo, Bonald C BC; Pappo, Alberto S AS; Rodriguez-Galindo, Carlos C; Chen, Wenan W; Pounds, Stanley S; Ribeiro, Raul C RC; Zambetti, Gerard P GP
Publication Date: 2021-05-01

Variant appearance in text: HR: R245C
PubMed Link: 33637564
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: HR: 733C>T; Arg245Cys
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Targeting MC1R depalmitoylation to prevent melanomagenesis in redheads.

Nature Communications
Chen, Shuyang S; Han, Changpeng C; Miao, Xiao X; Li, Xin X; Yin, Chengqian C; Zou, Junrong J; Liu, Min M; Li, Shanshan S; Stawski, Lukasz L; Zhu, Bo B; Shi, Qiong Q; Xu, Zhi-Xiang ZX; Li, Chunying C; Goding, Colin R CR; Zhou, Jun J; Cui, Rutao R
Publication Date: 2019-02-20

Variant appearance in text: HR: R245C
PubMed Link: 30787281
Variant Present in the following documents:
  • 41467_2019_Article_8691.pdf
View BVdb publication page