PALB2 c.278G>A ;(p.G93E)

Variant ID: 16-23647589-C-T

NM_024675.3(PALB2):c.278G>A;(p.G93E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: PALB2: 278G>A; G93E; rs761863504
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: PALB2: 278G>A; G93E
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



PALB2 connects BRCA1 and BRCA2 in the G2/M checkpoint response.

Oncogene
Simhadri, Srilatha S; Vincelli, Gabriele G; Huo, Yanying Y; Misenko, Sarah S; Foo, Tzeh Keong TK; Ahlskog, Johanna J; Sørensen, Claus S CS; Oakley, Gregory G GG; Ganesan, Shridar S; Bunting, Samuel F SF; Xia, Bing B
Publication Date: 2019-03

Variant appearance in text: PALB2: G93E
PubMed Link: 30337689
Variant Present in the following documents:
  • Main text
  • NIHMS1507950-supplement-1.pdf
  • nihms-1507950.pdf
View BVdb publication page