ATM c.44T>A ;(p.L15Q)

Variant ID: 11-108098395-T-A

NM_000051.3(ATM):c.44T>A;(p.L15Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Scientific Reports
Reza, Mahjerin Nasrin MN; Ferdous, Nadim N; Emon, Md Tabassum Hossain MTH; Islam, Md Shariful MS; Mohiuddin, A K M AKM; Hossain, Mohammad Uzzal MU
Publication Date: 2021-09-28

Variant appearance in text: rs1555053927
PubMed Link: 34584144
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_98547.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: 44T>A; L15Q
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Npj Precision Oncology
Finkle, Justin D JD; Boulos, Hala H; Driessen, Terri M TM; Lo, Christine C; Blidner, Richard A RA; Hafez, Ashraf A; Khan, Aly A AA; Lozac'hmeur, Ariane A; McKinnon, Kelly E KE; Perera, Jason J; Zhu, Wei W; Dowlati, Afshin A; White, Kevin P KP; Tell, Robert R; Beaubier, Nike N
Publication Date: 2021-07-02

Variant appearance in text: ATM: Leu15Gln
PubMed Link: 34215841
Variant Present in the following documents:
  • 41698_2021_202_MOESM1_ESM.pdf
View BVdb publication page