PALB2 c.103_104delinsGC ;(p.L35A)

Variant ID: 16-23649395-AG-GC

NM_024675.3(PALB2):c.103_104delinsGC;(p.L35A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.

Frontiers In Oncology
Wu, Shijie S; Zhou, Jiaojiao J; Zhang, Kun K; Chen, Huihui H; Luo, Meng M; Lu, Yuexin Y; Sun, Yuting Y; Chen, Yiding Y
Publication Date: 2020

Variant appearance in text: PALB2: L35A
PubMed Link: 32185139
Variant Present in the following documents:
  • Main text
  • fonc-10-00301.pdf
View BVdb publication page



Antiparallel Coiled-Coil Interactions Mediate the Homodimerization of the DNA Damage-Repair Protein PALB2.

Biochemistry
Song, Fei F; Li, Minxing M; Liu, Gaohua G; Swapna, G V T GVT; Daigham, Nourhan S NS; Xia, Bing B; Montelione, Gaetano T GT; Bunting, Samuel F SF
Publication Date: 2018-11-27

Variant appearance in text: PALB2: L35A
PubMed Link: 30289697
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance.

Elife
Anantha, Rachel W RW; Simhadri, Srilatha S; Foo, Tzeh Keong TK; Miao, Susanna S; Liu, Jingmei J; Shen, Zhiyuan Z; Ganesan, Shridar S; Xia, Bing B
Publication Date: 2017-04-11

Variant appearance in text: PALB2: L35A
PubMed Link: 28398198
Variant Present in the following documents:
  • Main text
  • elife-21350.pdf
View BVdb publication page



Male fertility defect associated with disrupted BRCA1-PALB2 interaction in mice.

The Journal Of Biological Chemistry
Simhadri, Srilatha S; Peterson, Shaun S; Patel, Dharm S DS; Huo, Yanying Y; Cai, Hong H; Bowman-Colin, Christian C; Miller, Shoreh S; Ludwig, Thomas T; Ganesan, Shridar S; Bhaumik, Mantu M; Bunting, Samuel F SF; Jasin, Maria M; Xia, Bing B
Publication Date: 2014-08-29

Variant appearance in text: PALB2: L35A
PubMed Link: 25016020
Variant Present in the following documents:
  • Main text
View BVdb publication page



PALB2 self-interaction controls homologous recombination.

Nucleic Acids Research
Buisson, RĂ©mi R; Masson, Jean-Yves JY
Publication Date: 2012-11-01

Variant appearance in text: PALB2: L35A
PubMed Link: 22941656
Variant Present in the following documents:
  • Main text
  • gks807.pdf
View BVdb publication page



PALB2 is an integral component of the BRCA complex required for homologous recombination repair.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sy, Shirley M H SM; Huen, Michael S Y MS; Chen, Junjie J
Publication Date: 2009-04-28

Variant appearance in text: PALB2: L35A
PubMed Link: 19369211
Variant Present in the following documents:
  • Main text
View BVdb publication page