PALB2 c.1237A>C ;(p.T413P)

Variant ID: 16-23646630-T-G

NM_024675.3(PALB2):c.1237A>C;(p.T413P)

This variant was identified in 2 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: 1237A>C; Thr413Pro; rs1335631200
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: T413P
PubMed Link: 29387807
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-2-14894.pdf
View BVdb publication page