BRCA1 c.5105_5106delinsTG ;(p.K1702M)

Variant ID: 17-41215937-TT-CA

NM_007294.3(BRCA1):c.5105_5106delinsTG;(p.K1702M)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Structural Basis of BRCC36 Function in DNA Repair and Immune Regulation.

Molecular Cell
Rabl, Julius J; Bunker, Richard D RD; Schenk, Andreas D AD; Cavadini, Simone S; Gill, Mark E ME; Abdulrahman, Wassim W; Andrés-Pons, Amparo A; Luijsterburg, Martijn S MS; Ibrahim, Adel F M AFM; Branigan, Emma E; Aguirre, Jacob D JD; Marceau, Aimee H AH; Guérillon, Claire C; Bouwmeester, Tewis T; Hassiepen, Ulrich U; Peters, Antoine H F M AHFM; Renatus, Martin M; Gelman, Laurent L; Rubin, Seth M SM; Mailand, Niels N; van Attikum, Haico H; Hay, Ronald T RT; Thomä, Nicolas H NH
Publication Date: 2019-08-08

Variant appearance in text: BRCA1: Lys1702Met
PubMed Link: 31253574
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page



Targeting Phosphopeptide Recognition by the Human BRCA1 Tandem BRCT Domain to Interrupt BRCA1-Dependent Signaling.

Cell Chemical Biology
Periasamy, Jayaprakash J; Kurdekar, Vadiraj V; Jasti, Subbarao S; Nijaguna, Mamatha B MB; Boggaram, Sanjana S; Hurakadli, Manjunath A MA; Raina, Dhruv D; Kurup, Lokavya Meenakshi LM; Chintha, Chetan C; Manjunath, Kavyashree K; Goyal, Aneesh A; Sadasivam, Gayathri G; Bharatham, Kavitha K; Padigaru, Muralidhara M; Potluri, Vijay V; Venkitaraman, Ashok R AR
Publication Date: 2018-06-21

Variant appearance in text: BRCA1: K1702M
PubMed Link: 29606576
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page



DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Plos One
Mahmood, A S M Ashique AS; Wu, Tsung-Jung TJ; Mazumder, Raja R; Vijay-Shanker, K K
Publication Date: 2016

Variant appearance in text: BRCA1: K1702M
PubMed Link: 27073839
Variant Present in the following documents:
  • pone.0152725.s003.xlsx, sheet 1
View BVdb publication page



Nuclear domain 'knock-in' screen for the evaluation and identification of small molecule enhancers of CRISPR-based genome editing.

Nucleic Acids Research
Pinder, Jordan J; Salsman, Jayme J; Dellaire, Graham G
Publication Date: 2015-10-30

Variant appearance in text: BRCA1: K1702M
PubMed Link: 26429972
Variant Present in the following documents:
  • Main text
  • supp_gkv993_nar-00621-h-2015-File009.pdf
View BVdb publication page



Peptide library approach to uncover phosphomimetic inhibitors of the BRCA1 C-terminal domain.

Acs Chemical Biology
White, E Railey ER; Sun, Luxin L; Ma, Zhong Z; Beckta, Jason M JM; Danzig, Brittany A BA; Hacker, David E DE; Huie, Melissa M; Williams, David C DC; Edwards, Ross A RA; Valerie, Kristoffer K; Glover, J N Mark JN; Hartman, Matthew C T MC
Publication Date: 2015-05-15

Variant appearance in text: BRCA1: K1702M
PubMed Link: 25654734
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1-directed, enhanced and aberrant homologous recombination: mechanism and potential treatment strategies.

Cell Cycle (Georgetown, Tex.)
Dever, Seth M SM; White, E Railey ER; Hartman, Matthew C T MC; Valerie, Kristoffer K
Publication Date: 2012-02-15

Variant appearance in text: BRCA1: K1702M
PubMed Link: 22306997
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1 A‐complex fine tunes repair functions of BRCA1.

Aging
Harris, Janelle L JL; Khanna, Kum Kum KK
Publication Date: 2011-05

Variant appearance in text: BRCA1: K1702M
PubMed Link: 21805697
Variant Present in the following documents:
  • Main text
  • aging-03-461.pdf
View BVdb publication page



Mutations in the BRCT binding site of BRCA1 result in hyper-recombination.

Aging
Dever, Seth M SM; Golding, Sarah E SE; Rosenberg, Elizabeth E; Adams, Bret R BR; Idowu, Michael O MO; Quillin, John M JM; Valerie, Nicholas N; Xu, Bo B; Povirk, Lawrence F LF; Valerie, Kristoffer K
Publication Date: 2011-05

Variant appearance in text: BRCA1: K1702M
PubMed Link: 21666281
Variant Present in the following documents:
  • Main text
View BVdb publication page