Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.2606C>A ;(p.A869E)
Variant ID: 11-108138037-C-A
NM_000051.3(
ATM
):c.2606C>A;(p.A869E)
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:
Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.
Scientific Reports
Maurya, Nehakumari N; Mohanty, Purvi P; Dhangar, Somprakash S; Panchal, Purvi P; Jijina, Farah F; Mathan, S Leo Prince SLP; Shanmukhaiah, Chandrakala C; Madkaikar, Manisha M; Vundinti, Babu Rao BR
Publication Date: 2022-04-08
Variant appearance in text: ATM: 2606C>A; Ala869Glu
PubMed Link:
35396491
Variant Present in the following documents:
41598_2022_9864_MOESM9_ESM.xlsx, sheet 1
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: 2606C>A; A869E; rs145513717
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page