ATM c.316A>G ;(p.K106E)

Variant ID: 11-108100035-A-G

NM_000051.3(ATM):c.316A>G;(p.K106E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Expanding Proteome Coverage with CHarge Ordered Parallel Ion aNalysis (CHOPIN) Combined with Broad Specificity Proteolysis.

Journal Of Proteome Research
Davis, Simon S; Charles, Philip D PD; He, Lin L; Mowlds, Peter P; Kessler, Benedikt M BM; Fischer, Roman R
Publication Date: 2017-03-03

Variant appearance in text: ATM: K106E
PubMed Link: 28164708
Variant Present in the following documents:
  • pr6b00915_si_002.xlsx, sheet 2
View BVdb publication page



Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

Jimd Reports
Bouchereau, Juliette J; Barrot, Sandrine Vuillaumier SV; Dupré, Thierry T; Moore, Stuart E H SE; Cardas, Ruxandra R; Capri, Yline Y; Gaignard, Pauline P; Slama, Abdelhamid A; Delanoë, Catherine C; Ogier de Baulny, Hélène H; Seta, Nathalie N; Schiff, Manuel M; Servais, Laurent L
Publication Date: 2016

Variant appearance in text: ATM: Lys106Glu
PubMed Link: 26920903
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural basis for phosphorylation-dependent recruitment of Tel2 to Hsp90 by Pih1.

Structure (London, England : 1993)
Pal, Mohinder M; Morgan, Marc M; Phelps, Sarah E L SE; Roe, S Mark SM; Parry-Morris, Sarah S; Downs, Jessica A JA; Polier, Sigrun S; Pearl, Laurence H LH; Prodromou, Chrisostomos C
Publication Date: 2014-06-10

Variant appearance in text: ATM: K106E
PubMed Link: 24794838
Variant Present in the following documents:
  • Main text
View BVdb publication page