BRCA1 c.4996_4997delinsGC ;(p.Y1666A)

Variant ID: 17-41219702-TA-GC

NM_007294.3(BRCA1):c.4996_4997delinsGC;(p.Y1666A)

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: BRCA1: Y1666A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites.

Molecular Cell
Wu, Qian Q; Paul, Atanu A; Su, Dan D; Mehmood, Shahid S; Foo, Tzeh Keong TK; Ochi, Takashi T; Bunting, Emma L EL; Xia, Bing B; Robinson, Carol V CV; Wang, Bin B; Blundell, Tom L TL
Publication Date: 2016-02-04

Variant appearance in text: BRCA1: Y1666A
PubMed Link: 26778126
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page