CHEK2 c.1036C>A ;(p.R346S)

Variant ID: 22-29092948-G-T

NM_007194.3(CHEK2):c.1036C>A;(p.R346S)

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: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Rare coding variants in DNA damage repair genes associated with timing of natural menopause.

Hgg Advances
Ward, Lucas D LD; Parker, Margaret M MM; Deaton, Aimee M AM; Tu, Ho-Chou HC; Flynn-Carroll, Alexander O AO; Hinkle, Gregory G; Nioi, Paul P
Publication Date: 2022-04-14

Variant appearance in text: rs201206424
PubMed Link: 35493704
Variant Present in the following documents:
  • mmc2.xlsx, sheet 7
View BVdb publication page



Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Human Molecular Genetics
Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER
Publication Date: 2022-08-25

Variant appearance in text: rs201206424
PubMed Link: 35441217
Variant Present in the following documents:
  • hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx, sheet 2
View BVdb publication page



A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
Publication Date: 2017-05-31

Variant appearance in text: rs201206424
PubMed Link: 28569218
Variant Present in the following documents:
  • Main text
  • 13058_2017_Article_854.pdf
View BVdb publication page