ARID1A c.683C>T ;(p.A228V)

Variant ID: 1-27023577-C-T

NM_006015.4(ARID1A):c.683C>T;(p.A228V)

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: rs748537909
PubMed Link: 35257783
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genomic profiling of Chinese patients with urothelial carcinoma.

Bmc Cancer
Yang, Bo B; Zhao, Xiao X; Wan, Chong C; Ma, Xin X; Niu, Shaoxi S; Guo, Aitao A; Wang, Jieli J; Wang, Jinliang J; Sun, Decong D; Jiao, Shunchang S
Publication Date: 2021-02-15

Variant appearance in text: ARID1A: 683C>T; Ala228Val
PubMed Link: 33588785
Variant Present in the following documents:
  • 12885_2021_7829_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Scientific Reports
Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P
Publication Date: 2019-11-19

Variant appearance in text: ARID1A: 683C>T
PubMed Link: 31745173
Variant Present in the following documents:
  • 41598_2019_53636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page