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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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