PALB2 c.3061G>A ;(p.G1021R)

Variant ID: 16-23632735-C-T

NM_024675.3(PALB2):c.3061G>A;(p.G1021R)

This variant was identified in 8 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: 3061G>A; Gly1021Arg; rs143808171
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: 3061G>A; G1021R; rs143808171
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: G1021R; rs143808171
PubMed Link: 34092963
Variant Present in the following documents:
  • Main text
  • 97320630017424.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: PALB2: 3061G>A; G1021R
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Frontiers In Molecular Biosciences
Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H
Publication Date: 2020

Variant appearance in text: PALB2: 3061G>A; G1021R
PubMed Link: 33195396
Variant Present in the following documents:
  • fmolb-07-00169.pdf
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: PALB2: 3061G>A; G1021R
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Functional characterization of 84 PALB2 variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wiltshire, Timothy T; Ducy, Mandy M; Foo, Tzeh Keong TK; Hu, Chunling C; Lee, Kun Y KY; Belur Nagaraj, Anil A; Rodrigue, Amélie A; Gomes, Thiago T TT; Simard, Jacques J; Monteiro, Alvaro N A ANA; Xia, Bing B; Carvalho, Marcelo A MA; Masson, Jean-Yves JY; Couch, Fergus J FJ
Publication Date: 2020-03

Variant appearance in text: PALB2: 3061G>A; G1021R
PubMed Link: 31636395
Variant Present in the following documents:
  • Main text
  • 41436_2019_Article_682.pdf
View BVdb publication page



Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

Breast Cancer Research And Treatment
Nguyen-Dumont, Tú T; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Teo, Zhi L ZL; Li, Roger R; Pope, Bernard J BJ; Terry, Mary Beth MB; Buys, Saundra S SS; Daly, Mary M; Hopper, John L JL; Winship, Ingrid I; Goldgar, David E DE; Park, Daniel J DJ; Southey, Melissa C MC
Publication Date: 2015-01

Variant appearance in text: PALB2: 3061G>A; G1021R; rs143808171
PubMed Link: 25575445
Variant Present in the following documents:
  • Main text
View BVdb publication page