BRCA2 c.1819_1820delinsGC ;(p.K607A)

Variant ID: 13-32907434-AA-GC

NM_000059.3(BRCA2):c.1819_1820delinsGC;(p.K607A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: FANCD1: K607A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Shaping the BRCAness mutational landscape by alternative double-strand break repair, replication stress and mitotic aberrancies.

Nucleic Acids Research
Stok, Colin C; Kok, Yannick P YP; van den Tempel, Nathalie N; van Vugt, Marcel A T M MATM
Publication Date: 2021-05-07

Variant appearance in text: BRCA2: K607A
PubMed Link: 33744950
Variant Present in the following documents:
  • Main text
View BVdb publication page