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ATM c.1394G>C ;(p.C465S)
Variant ID: 11-108121586-G-C
NM_000051.3(
ATM
):c.1394G>C;(p.C465S)
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: 1394G>C; C465S
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
High-resolution melting curve analysis for rapid detection of mutations in a Medaka TILLING library.
Bmc Molecular Biology
Ishikawa, Tomoko T; Kamei, Yasuhiro Y; Otozai, Shinji S; Kim, Jinhyong J; Sato, Ayuko A; Kuwahara, Yoshikazu Y; Tanaka, Minoru M; Deguchi, Tomonori T; Inohara, Hidenori H; Tsujimura, Tohru T; Todo, Takeshi T
Publication Date: 2010-09-15
Variant appearance in text: ATM: C465S
PubMed Link:
20840787
Variant Present in the following documents:
Main text
1471-2199-11-70.pdf
View BVdb publication page