Publications:

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: 2425T>G; Ser809Ala

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: ATM: 2425T>G; Ser809Ala

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

View BVdb publication page

Protein kinase A-dependent phosphorylation stimulates the transcriptional activity of hypoxia-inducible factor 1.

Science Signaling

Bullen, John W JW; Tchernyshyov, Irina I; Holewinski, Ronald J RJ; DeVine, Lauren L; Wu, Fan F; Venkatraman, Vidya V; Kass, David L DL; Cole, Robert N RN; Van Eyk, Jennifer J; Semenza, Gregg L GL

Publication Date: 2016-05-31

Variant appearance in text: ATM: S809A

PubMed Link: 27245613

Variant Present in the following documents:

• Main text

View BVdb publication page