BRCA2 c.2521_2523delinsCAT ;(p.R841H)

Variant ID: 13-32911013-AGA-CAT

NM_000059.3(BRCA2):c.2521_2523delinsCAT;(p.R841H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic basis of SMARCB1 protein loss in 22 sinonasal carcinomas.

Human Pathology
Dogan, Snjezana S; Cotzia, Paolo P; Ptashkin, Ryan N RN; Nanjangud, Gouri J GJ; Xu, Bin B; Momeni Boroujeni, Amir A; Cohen, Marc A MA; Pfister, David G DG; Prasad, Manju L ML; Antonescu, Cristina R CR; Chen, Yingbei Y; Gounder, Mrinal M MM
Publication Date: 2020-10

Variant appearance in text: BRCA2: R841H
PubMed Link: 32818509
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between polymorphisms in sex hormones synthesis and metabolism and prostate cancer aggressiveness.

Plos One
Robles-Fernandez, Inmaculada I; Martinez-Gonzalez, Luis Javier LJ; Pascual-Geler, Manrique M; Cozar, Jose Manuel JM; Puche-Sanz, Ignacio I; Serrano, Maria Jose MJ; Lorente, Jose Antonio JA; Alvarez-Cubero, Maria Jesus MJ
Publication Date: 2017

Variant appearance in text: BRCA2: R841H
PubMed Link: 28981526
Variant Present in the following documents:
  • Main text
  • pone.0185447.pdf
View BVdb publication page