ATM c.1121A>G ;(p.Q374R)

Variant ID: 11-108119715-A-G

NM_000051.3(ATM):c.1121A>G;(p.Q374R)

This variant was identified in 2 publications

View GRCh38 version.




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: 1121A>G; Gln374Arg
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Aslan, Deniz D
Publication Date: 2021-06-01

Variant appearance in text: ATD: 1121A>G
PubMed Link: 33401890
Variant Present in the following documents:
  • Main text
  • TJH-38-161.pdf
View BVdb publication page