Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.3740T>C ;(p.F1247S)
Variant ID: 11-108153600-T-C
NM_000051.3(
ATM
):c.3740T>C;(p.F1247S)
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:
Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.
Blood Advances
Frauenfeld, Leonie L; Castrejon-de-Anta, Natalia N; Ramis-Zaldivar, Joan Enric JE; Streich, Sebastian S; Salmerón-Villalobos, Julia J; Otto, Franziska F; Mayer, Annika Katharina AK; Steinhilber, Julia J; Pinyol, Magda M; Mankel, Barbara B; Ramsower, Colleen C; Bonzheim, Irina I; Fend, Falko F; Rimsza, Lisa M LM; Salaverria, Itziar I; Campo, Elias E; Balagué, Olga O; Quintanilla-Martinez, Leticia L
Publication Date: 2022-04-12
Variant appearance in text: ATM: F1247S
PubMed Link:
34654055
Variant Present in the following documents:
advancesADV2021006034-suppl1.pdf
View BVdb publication page
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: 3740T>C; Phe1247Ser
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page