SMARCA4 c.2755C>T ;(p.P919S)

Variant ID: 19-11132539-C-T

NM_003072.3(SMARCA4):c.2755C>T;(p.P919S)

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: SMARCA4: 2755C>T; Pro919Ser
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Integrative Genomic Analyses of Patient-Matched Intracranial and Extracranial Metastases Reveal a Novel Brain-Specific Landscape of Genetic Variants in Driver Genes of Malignant Melanoma.

Cancers
Váraljai, Renáta R; Horn, Susanne S; Sucker, Antje A; Piercianek, Daniela D; Schmitt, Verena V; Carpinteiro, Alexander A; Becker, Katrin Anne KA; Reifenberger, Julia J; Roesch, Alexander A; Felsberg, Joerg J; Reifenberger, Guido G; Sure, Ulrich U; Schadendorf, Dirk D; Helfrich, Iris I
Publication Date: 2021-02-10

Variant appearance in text: SMARCA4: P919S
PubMed Link: 33578810
Variant Present in the following documents:
  • Main text
  • cancers-13-00731.pdf
View BVdb publication page