BRCA1 c.3990C>T ;(p.S1330=)

Variant ID: 17-41243558-G-A

NM_007294.3(BRCA1):c.3990C>T;(p.S1330=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: BRCA1: S1330s
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: BRCA1: 3990C>T; Ser1330Ser
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genome-Wide Transcriptional Regulation Mediated by Biochemically Distinct SWI/SNF Complexes.

Plos Genetics
Raab, Jesse R JR; Resnick, Samuel S; Magnuson, Terry T
Publication Date: 2015-12

Variant appearance in text: BRCA1: S1330S
PubMed Link: 26716708
Variant Present in the following documents:
  • Main text
  • pgen.1005748.pdf
View BVdb publication page



Activation of miR200 by c-Myb depends on ZEB1 expression and miR200 promoter methylation.

Cell Cycle (Georgetown, Tex.)
Pieraccioli, Marco M; Imbastari, Francesca F; Antonov, Alexey A; Melino, Gerry G; Raschellà, Giuseppe G
Publication Date: 2013-07-15

Variant appearance in text: BRCA1: S1330S
PubMed Link: 24067373
Variant Present in the following documents:
  • Main text
View BVdb publication page