ARID1A c.1268G>A ;(p.G423E)

Variant ID: 1-27056272-G-A

NM_006015.4(ARID1A):c.1268G>A;(p.G423E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: ARID1A: G423E
PubMed Link: 33578810
Variant Present in the following documents:
  • Main text
  • cancers-13-00731.pdf
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: ARID1A: 1268G>A; G423D
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page