RET c.511_512delinsCA ;(p.R171Q)

Variant ID: 10-43597963-AG-CA

NM_020975.4(RET):c.511_512delinsCA;(p.R171Q)

This variant was identified in 3 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: R171Q
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: RET: R171Q
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comparative genomic hybridization reveals frequent losses of chromosomes 1p and 3q in pheochromocytomas and abdominal paragangliomas, suggesting a common genetic etiology.

The American Journal Of Pathology
Edström, E E; Mahlamäki, E E; Nord, B B; Kjellman, M M; Karhu, R R; Höög, A A; Goncharov, N N; Teh, B T BT; Bäckdahl, M M; Larsson, C C
Publication Date: 2000-02

Variant appearance in text: RET: R171Q
PubMed Link: 10666394
Variant Present in the following documents:
  • Main text
View BVdb publication page