Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.4534G>A ;(p.A1512T)
Variant ID: 11-108163443-G-A
NM_000051.3(
ATM
):c.4534G>A;(p.A1512T)
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:
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: 4534G>A; A1512T
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Stable expansion of high-grade serous ovarian cancer organoids requires a low-Wnt environment.
The Embo Journal
Hoffmann, Karen K; Berger, Hilmar H; Kulbe, Hagen H; Thillainadarasan, Sukanija S; Mollenkopf, Hans-Joachim HJ; Zemojtel, Tomasz T; Taube, Eliane E; Darb-Esfahani, Silvia S; Mangler, Mandy M; Sehouli, Jalid J; Chekerov, Radoslav R; Braicu, Elena I EI; Meyer, Thomas F TF; Kessler, Mirjana M
Publication Date: 2020-03-16
Variant appearance in text: ATM: 4534G>A
PubMed Link:
32009247
Variant Present in the following documents:
Main text
EMBJ-39-e104013.pdf
EMBJ-39-e104013-s006.xlsx, sheet 1
View BVdb publication page