Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ATM: Q65R; rs760471526

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: ATM: 194A>G; Q65R; rs760471526

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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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: ATM: 194A>G; Q65R; rs760471526

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Impact of HIV-1 Vpr manipulation of the DNA repair enzyme UNG2 on B lymphocyte class switch recombination.

Journal Of Translational Medicine

Eldin, Patrick P; Péron, Sophie S; Galashevskaya, Anastasia A; Denis-Lagache, Nicolas N; Cogné, Michel M; Slupphaug, Geir G; Briant, Laurence L

Publication Date: 2020-08-10

Variant appearance in text: ATM: Q65R

PubMed Link: 32778120

Variant Present in the following documents:

• Main text

View BVdb publication page

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HIV Vpr Modulates the Host DNA Damage Response at Two Independent Steps to Damage DNA and Repress Double-Strand DNA Break Repair.

Mbio

Li, Donna D; Lopez, Andrew A; Sandoval, Carina C; Nichols Doyle, Randilea R; Fregoso, Oliver I OI

Publication Date: 2020-08-04

Variant appearance in text: ATM: Q65R

PubMed Link: 32753492

Variant Present in the following documents:

• Main text

View BVdb publication page

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Medullary Pancreatic Carcinoma Due to Somatic POLE Mutation: A Distinctive Pancreatic Carcinoma With Marked Long-Term Survival.

Pancreas

Kryklyva, Valentyna V; Ter Linden, Esther E; Kroeze, Leonie I LI; de Voer, Richarda M RM; van der Kolk, B Marion BM; Stommel, Martijn W J MWJ; Hermans, John J JJ; Luchini, Claudio C; Wood, Laura D LD; Hruban, Ralph H RH; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; Brosens, Lodewijk A A LAA

Publication Date: 2020-08

Variant appearance in text: ATM: 194A>G

PubMed Link: 32658072

Variant Present in the following documents:

• mpa-49-999-s001.pdf

View BVdb publication page

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Illuminating the Role of Vpr in HIV Infection of Myeloid Cells.

Frontiers In Immunology

Nodder, Sarah Beth SB; Gummuluru, Suryaram S

Publication Date: 2019

Variant appearance in text: ATM: Q65R

PubMed Link: 31396206

Variant Present in the following documents:

• Main text

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: ATM: Q65R

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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Structural alteration of DNA induced by viral protein R of HIV-1 triggers the DNA damage response.

Retrovirology

Iijima, Kenta K; Kobayashi, Junya J; Ishizaka, Yukihito Y

Publication Date: 2018-01-16

Variant appearance in text: ATM: Q65R

PubMed Link: 29338752

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polyploidy and Mitotic Cell Death Are Two Distinct HIV-1 Vpr-Driven Outcomes in Renal Tubule Epithelial Cells.

Journal Of Virology

Payne, Emily H EH; Ramalingam, Dhivya D; Fox, Donald T DT; Klotman, Mary E ME

Publication Date: 2018-01-15

Variant appearance in text: ATM: Q65R

PubMed Link: 29093088

Variant Present in the following documents:

• Main text

View BVdb publication page

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HIV-1 Vpr Protein Enhances Proteasomal Degradation of MCM10 DNA Replication Factor through the Cul4-DDB1[VprBP] E3 Ubiquitin Ligase to Induce G2/M Cell Cycle Arrest.

The Journal Of Biological Chemistry

Romani, Bizhan B; Shaykh Baygloo, Nima N; Aghasadeghi, Mohammad Reza MR; Allahbakhshi, Elham E

Publication Date: 2015-07-10

Variant appearance in text: ATM: Q65R

PubMed Link: 26032416

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interactions with DCAF1 and DDB1 in the CRL4 E3 ubiquitin ligase are required for Vpr-mediated G2 arrest.

Virology Journal

Hakata, Yoshiyuki Y; Miyazawa, Masaaki M; Landau, Nathaniel R NR

Publication Date: 2014-06-09

Variant appearance in text: ATM: Q65R

PubMed Link: 24912982

Variant Present in the following documents:

• Main text
• 1743-422X-11-108.pdf

View BVdb publication page

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Formation of mobile chromatin-associated nuclear foci containing HIV-1 Vpr and VPRBP is critical for the induction of G2 cell cycle arrest.

Plos Pathogens

Belzile, Jean-Philippe JP; Abrahamyan, Levon G LG; Gérard, Francine C A FC; Rougeau, Nicole N; Cohen, Eric A EA

Publication Date: 2010-09-02

Variant appearance in text: ATM: Q65R

PubMed Link: 20824083

Variant Present in the following documents:

• Main text
• ppat.1001080.pdf

View BVdb publication page

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HIV-1 Vpr: mechanisms of G2 arrest and apoptosis.

Experimental And Molecular Pathology

Andersen, Joshua L JL; Le Rouzic, Erwann E; Planelles, Vicente V

Publication Date: 2008-08

Variant appearance in text: ATM: Q65R

PubMed Link: 18514189

Variant Present in the following documents:

• Main text

View BVdb publication page

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HIV-1 Vpr-mediated G2 arrest involves the DDB1-CUL4AVPRBP E3 ubiquitin ligase.

Plos Pathogens

Belzile, Jean-Philippe JP; Duisit, Ghislaine G; Rougeau, Nicole N; Mercier, Johanne J; Finzi, Andrés A; Cohen, Eric A EA

Publication Date: 2007-07

Variant appearance in text: ATM: Q65R

PubMed Link: 17630831

Variant Present in the following documents:

• Main text
• ppat.0030085.pdf

View BVdb publication page

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