RAD50 c.3253A>G ;(p.I1085V)

Variant ID: 5-131953850-A-G

NM_005732.3(RAD50):c.3253A>G;(p.I1085V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine
Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G
Publication Date: 2022-09-20

Variant appearance in text: RAD50: 3253A>G; I1085V; rs143189763
PubMed Link: 36125633
Variant Present in the following documents:
  • CAM4-12-4042-s001.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: RAD50: 3253A>G; I1085V; rs143189763
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Penile Cancer-Derived Cells Molecularly Characterized as Models to Guide Targeted Therapies.

Cells
Kuasne, Hellen H; Canto, Luisa Matos do LMD; Aagaard, Mads Malik MM; Muñoz, Juan Jose Moyano JJM; Jamblinne, Camille De C; Marchi, Fabio Albuquerque FA; Scapulatempo-Neto, Cristovam C; Faria, Eliney Ferreira EF; Lopes, Ademar A; Carréno, Sébastien S; Rogatto, Silvia Regina SR
Publication Date: 2021-04-06

Variant appearance in text: RAD50: 3253A>G; rs143189763
PubMed Link: 33917394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RAD50: 3253A>G; Ile1085Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: RAD50: I1085V; rs143189763
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page