PALB2 c.809G>A ;(p.S270N)

Variant ID: 16-23647058-C-T

NM_024675.3(PALB2):c.809G>A;(p.S270N)

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: 809G>A; Ser270Asn
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: PALB2: S270N
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

Blood
Biswas, Kajal K; Das, Ranabir R; Alter, Blanche P BP; Kuznetsov, Sergey G SG; Stauffer, Stacey S; North, Susan L SL; Burkett, Sandra S; Brody, Lawrence C LC; Meyer, Stefan S; Byrd, R Andrew RA; Sharan, Shyam K SK
Publication Date: 2011-09-01

Variant appearance in text: PALB2: 809G>A
PubMed Link: 21719596
Variant Present in the following documents:
  • Main text
View BVdb publication page