ATM c.121_122delinsGC ;(p.K41A)

Variant ID: 11-108098551-AA-GC

NM_000051.3(ATM):c.121_122delinsGC;(p.K41A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Human Mutation
Nasca, Alessia A; Legati, Andrea A; Baruffini, Enrico E; Nolli, Cecilia C; Moroni, Isabella I; Ardissone, Anna A; Goffrini, Paola P; Ghezzi, Daniele D
Publication Date: 2016-09

Variant appearance in text: ATM: Lys41Ala
PubMed Link: 27328748
Variant Present in the following documents:
  • Main text
  • HUMU-37-898.pdf
View BVdb publication page



Antagonism of Chk1 signaling in the G2 DNA damage checkpoint by dominant alleles of Cdr1.

Genetics
Calonge, Teresa M TM; O'Connell, Matthew J MJ
Publication Date: 2006-09

Variant appearance in text: ATM: K41A
PubMed Link: 16816416
Variant Present in the following documents:
  • Main text
View BVdb publication page



Srs2 and Sgs1 DNA helicases associate with Mre11 in different subcomplexes following checkpoint activation and CDK1-mediated Srs2 phosphorylation.

Molecular And Cellular Biology
Chiolo, Irene I; Carotenuto, Walter W; Maffioletti, Giulio G; Petrini, John H J JH; Foiani, Marco M; Liberi, Giordano G
Publication Date: 2005-07

Variant appearance in text: ATM: K41A
PubMed Link: 15964827
Variant Present in the following documents:
  • Main text
View BVdb publication page