ARID1A c.5578G>A ;(p.E1860K)

Variant ID: 1-27105967-G-A

NM_006015.4(ARID1A):c.5578G>A;(p.E1860K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ARID1A: E1860K; rs781684543
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: ARID1A: E1860K
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



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: rs781684543
PubMed Link: 35257783
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Plos One
Polymeros, Konstantinos K; Guttery, David S DS; Hew, Roger R; Bishop, Rachael R; Stannard, Elizabeth E; Macip, Salvador S; Symonds, Paul P; Moss, Esther L EL
Publication Date: 2020

Variant appearance in text: ARID1A: 5578G>A; E1860K
PubMed Link: 32520976
Variant Present in the following documents:
  • pone.0233900.s001.xlsx, sheet 1
View BVdb publication page