ARID1A c.5270C>T ;(p.A1757V)

Variant ID: 1-27105659-C-T

NM_006015.4(ARID1A):c.5270C>T;(p.A1757V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators.

Journal Of Molecular Biology
Deák, Gauri G; Cook, Atlanta G AG
Publication Date: 2022-05-15

Variant appearance in text: rs775549195
PubMed Link: 35257783
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: ARID1A: A1757V
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Nature Communications
Aref-Eshghi, Erfan E; Bend, Eric G EG; Hood, Rebecca L RL; Schenkel, Laila C LC; Carere, Deanna Alexis DA; Chakrabarti, Rana R; Nagamani, Sandesh C S SCS; Cheung, Sau Wai SW; Campeau, Philippe M PM; Prasad, Chitra C; Siu, Victoria Mok VM; Brady, Lauren L; Tarnopolsky, Mark A MA; Callen, David J DJ; Innes, A Micheil AM; White, Susan M SM; Meschino, Wendy S WS; Shuen, Andrew Y AY; Paré, Guillaume G; Bulman, Dennis E DE; Ainsworth, Peter J PJ; Lin, Hanxin H; Rodenhiser, David I DI; Hennekam, Raoul C RC; Boycott, Kym M KM; Schwartz, Charles E CE; Sadikovic, Bekim B
Publication Date: 2018-11-20

Variant appearance in text: ARID1A: 5270C>T; Ala1757Val
PubMed Link: 30459321
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7193.pdf
View BVdb publication page