PALB2 c.2763G>C ;(p.Q921H)

Variant ID: 16-23635401-C-G

NM_024675.3(PALB2):c.2763G>C;(p.Q921H)

This variant was identified in 4 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: 2763G>C; Gln921His; rs372931676
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: 2763G>C; Gln921His; rs372931676
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference.

Bioinformation
Nawar, Noshin N; Paul, Anik A; Mahmood, Hamida Nooreen HN; Faisal, Md Ismail MI; Hosen, Md Ismail MI; Shekhar, Hossain Uddin HU
Publication Date: 2021

Variant appearance in text: PALB2: Q921H; rs372931676
PubMed Link: 34092963
Variant Present in the following documents:
  • Main text
  • 97320630017424.pdf
View BVdb publication page



Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.

Wellcome Open Research
Bleuyard, Jean-Yves JY; Butler, Rosie M RM; Esashi, Fumiko F
Publication Date: 2017

Variant appearance in text: PALB2: Q921H
PubMed Link: 29387807
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-2-14894.pdf
View BVdb publication page