RET c.523C>T ;(p.R175C)

Variant ID: 10-43597975-C-T

NM_020975.4(RET):c.523C>T;(p.R175C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: RET: R175C
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Dynamic changes of circulating tumour DNA in surgical lung cancer patients: protocol for a prospective observational study.

Bmj Open
Chen, Kezhong K; Zhao, Heng H; Yang, Fan F; Hui, Bengang B; Wang, Tianyang T; Wang, Lieu Tu LT; Shi, Yanbin Y; Wang, Jun J
Publication Date: 2018-02-06

Variant appearance in text: RET: R175C
PubMed Link: 29437753
Variant Present in the following documents:
  • Main text
  • bmjopen-2017-019012.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: RET: R175C
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Journal Of Human Genetics
Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Liu, Aiyi A; Romitti, Paul A PA; Kuehn, Devon D; Conley, Mary R MR; Caggana, Michele M; Druschel, Charlotte M CM; Brody, Lawrence C LC; Mills, James L JL
Publication Date: 2012-08

Variant appearance in text: RET: 523C>T; R175C
PubMed Link: 22648184
Variant Present in the following documents:
  • Main text
View BVdb publication page