PALB2 c.2228A>T ;(p.Y743F)

Variant ID: 16-23641247-T-A

NM_024675.3(PALB2):c.2228A>T;(p.Y743F)

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: N/A
PubMed Link: 36922933
Variant Present in the following documents:
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: Y743F
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.

Cancer Science
Sato, Katsutoshi K; Koyasu, Mio M; Nomura, Sachio S; Sato, Yuri Y; Kita, Mizuho M; Ashihara, Yuumi Y; Adachi, Yasue Y; Ohno, Shinji S; Iwase, Takuji T; Kitagawa, Dai D; Nakashima, Eri E; Yoshida, Reiko R; Miki, Yoshio Y; Arai, Masami M
Publication Date: 2017-11

Variant appearance in text: rs141749524
PubMed Link: 28796317
Variant Present in the following documents:
  • CAS-108-2287.pdf
View BVdb publication page