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ATM c.91_92delinsGC ;(p.K31A)
Variant ID: 11-108098521-AA-GC
NM_000051.3(
ATM
):c.91_92delinsGC;(p.K31A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hsc70/Stub1 promotes the removal of individual oxidatively stressed peroxisomes.
Nature Communications
Chen, Bo-Hua BH; Chang, Yao-Jen YJ; Lin, Steven S; Yang, Wei Yuan WY
Publication Date: 2020-10-19
Variant appearance in text: ATM: K31A
PubMed Link:
33077711
Variant Present in the following documents:
Main text
41467_2020_Article_18942.pdf
41467_2020_18942_MOESM1_ESM.pdf
View BVdb publication page
Recognition and repair of chemically heterogeneous structures at DNA ends.
Environmental And Molecular Mutagenesis
Andres, Sara N SN; Schellenberg, Matthew J MJ; Wallace, Bret D BD; Tumbale, Percy P; Williams, R Scott RS
Publication Date: 2015-01
Variant appearance in text: ATM: K31A
PubMed Link:
25111769
Variant Present in the following documents:
Main text
View BVdb publication page