BRCA2 c.362_363delinsTG ;(p.K121M)

Variant ID: 13-32899258-AA-TG

NM_000059.3(BRCA2):c.362_363delinsTG;(p.K121M)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Polymerase θ-helicase efficiently unwinds DNA and RNA-DNA hybrids.

The Journal Of Biological Chemistry
Ozdemir, Ahmet Y AY; Rusanov, Timur T; Kent, Tatiana T; Siddique, Labiba A LA; Pomerantz, Richard T RT
Publication Date: 2018-04-06

Variant appearance in text: BRCA2: K121M
PubMed Link: 29444826
Variant Present in the following documents:
  • Main text
View BVdb publication page



The helicase domain of Polθ counteracts RPA to promote alt-NHEJ.

Nature Structural & Molecular Biology
Mateos-Gomez, Pedro A PA; Kent, Tatiana T; Deng, Sarah K SK; McDevitt, Shane S; Kashkina, Ekaterina E; Hoang, Trung M TM; Pomerantz, Richard T RT; Sfeir, Agnel A
Publication Date: 2017-12

Variant appearance in text: BRCA2: K121M
PubMed Link: 29058711
Variant Present in the following documents:
  • Main text
View BVdb publication page



Essential Roles for Polymerase θ-Mediated End Joining in the Repair of Chromosome Breaks.

Molecular Cell
Wyatt, David W DW; Feng, Wanjuan W; Conlin, Michael P MP; Yousefzadeh, Matthew J MJ; Roberts, Steven A SA; Mieczkowski, Piotr P; Wood, Richard D RD; Gupta, Gaorav P GP; Ramsden, Dale A DA
Publication Date: 2016-08-18

Variant appearance in text: BRCA2: K121M
PubMed Link: 27453047
Variant Present in the following documents:
  • Main text
View BVdb publication page