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ATM c.8525C>G ;(p.P2842R)
Variant ID: 11-108216576-C-G
NM_000051.3(
ATM
):c.8525C>G;(p.P2842R)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: 8525C>G; P2842R
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: ATM: P2842R
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
Plos One
George Priya Doss, C C; Rajith, B B
Publication Date: 2012
Variant appearance in text: ATM: P2842R
PubMed Link:
22529920
Variant Present in the following documents:
Main text
pone.0034573.pdf
View BVdb publication page
Predicting the functional impact of protein mutations: application to cancer genomics.
Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01
Variant appearance in text: ATM: P2842R
PubMed Link:
21727090
Variant Present in the following documents:
supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page