ARID1A c.3033G>T ;(p.L1011F)

Variant ID: 1-27094325-G-T

NM_006015.4(ARID1A):c.3033G>T;(p.L1011F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ARID1A: L1011F
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sadikovic, Bekim B; Levy, Michael A MA; Kerkhof, Jennifer J; Aref-Eshghi, Erfan E; Schenkel, Laila L; Stuart, Alan A; McConkey, Haley H; Henneman, Peter P; Venema, Andrea A; Schwartz, Charles E CE; Stevenson, Roger E RE; Skinner, Steven A SA; DuPont, Barbara R BR; Fletcher, Robin S RS; Balci, Tugce B TB; Siu, Victoria Mok VM; Granadillo, Jorge L JL; Masters, Jennefer J; Kadour, Mike M; Friez, Michael J MJ; van Haelst, Mieke M MM; Mannens, Marcel M A M MMAM; Louie, Raymond J RJ; Lee, Jennifer A JA; Tedder, Matthew L ML; Alders, Marielle M
Publication Date: 2021-06

Variant appearance in text: ARID1A: 3033G>T; Leu1011Phe
PubMed Link: 33547396
Variant Present in the following documents:
  • 41436_2020_1096_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page