BRCA1 c.208_209delinsGC ;(p.K70A)

Variant ID: 17-41258476-TT-GC

NM_007294.3(BRCA1):c.208_209delinsGC;(p.K70A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


When the RAP (80) fades out, you can hear BRCA1 RING.

Embo Reports
Panagopoulos, Andreas A; Altmeyer, Matthias M
Publication Date: 2021-12-06

Variant appearance in text: BRCA1: K70A
PubMed Link: 34726332
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two redundant ubiquitin-dependent pathways of BRCA1 localization to DNA damage sites.

Embo Reports
Sherker, Alana A; Chaudhary, Natasha N; Adam, Salomé S; Heijink, Anne Margriet AM; Noordermeer, Sylvie M SM; Fradet-Turcotte, Amélie A; Durocher, Daniel D
Publication Date: 2021-12-06

Variant appearance in text: BRCA1: K70A
PubMed Link: 34726323
Variant Present in the following documents:
  • Main text
  • EMBR-22-e53679.pdf
  • EMBR-22-e53679-s008.xlsx, sheet 2
View BVdb publication page



Two redundant ubiquitin-dependent pathways of BRCA1 localization to DNA damage sites.

Embo Reports
Sherker, Alana A; Chaudhary, Natasha N; Adam, Salomé S; Heijink, Anne Margriet AM; Noordermeer, Sylvie M SM; Fradet-Turcotte, Amélie A; Durocher, Daniel D
Publication Date: 2021-12-06

Variant appearance in text: BRCA1: K70A
PubMed Link: 34726323
Variant Present in the following documents:
  • Main text
  • EMBR-22-e53679.pdf
  • EMBR-22-e53679-s008.xlsx, sheet 2
View BVdb publication page



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: BRCA1: K70A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



BRCA1/BARD1 site-specific ubiquitylation of nucleosomal H2A is directed by BARD1.

Nature Structural & Molecular Biology
Witus, Samuel R SR; Burrell, Anika L AL; Farrell, Daniel P DP; Kang, Jianming J; Wang, Meiling M; Hansen, Jesse M JM; Pravat, Alex A; Tuttle, Lisa M LM; Stewart, Mikaela D MD; Brzovic, Peter S PS; Chatterjee, Champak C; Zhao, Weixing W; DiMaio, Frank F; Kollman, Justin M JM; Klevit, Rachel E RE
Publication Date: 2021-03

Variant appearance in text: BRCA1: Lys70Ala
PubMed Link: 33589814
Variant Present in the following documents:
  • Main text
  • nihms-1657757.pdf
View BVdb publication page



Crystal structure of the PRC1 ubiquitylation module bound to the nucleosome.

Nature
McGinty, Robert K RK; Henrici, Ryan C RC; Tan, Song S
Publication Date: 2014-10-30

Variant appearance in text: BRCA1: Lys70Ala
PubMed Link: 25355358
Variant Present in the following documents:
  • Main text
  • nihms631696.pdf
View BVdb publication page