ADAR c.3233G>A ;(p.R1078H)

Variant ID: 1-154558311-C-T

NM_001111.4(ADAR):c.3233G>A;(p.R1078H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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; BalmaƱa, 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: ADAR: R1078H
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria.

Genetic Testing And Molecular Biomarkers
Tang, Zhuang-Li ZL; Wang, Shuang S; Tu, Chen C; Wang, Tian T; Ma, Cheng-Wen CW; Liu, Yan Y; Xiao, Sheng-Xiang SX; Wang, Xiao-Peng XP
Publication Date: 2018-02

Variant appearance in text: ADAR1: 3233G>A
PubMed Link: 29185800
Variant Present in the following documents:
  • Main text
  • gtmb.2017.0207.pdf
View BVdb publication page