BRDT c.1853G>A ;(p.R618H)

Variant ID: 1-92446927-G-A

NM_207189.2(BRDT):c.1853G>A;(p.R618H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrated genomic and transcriptomic analysis reveals unique characteristics of hepatic metastases and pro-metastatic role of complement C1q in pancreatic ductal adenocarcinoma.

Genome Biology
Yang, Jianyu J; Lin, Ping P; Yang, Minwei M; Liu, Wei W; Fu, Xueliang X; Liu, Dejun D; Tao, Lingye L; Huo, Yanmiao Y; Zhang, Junfeng J; Hua, Rong R; Zhang, Zhigang Z; Li, Yixue Y; Wang, Liwei L; Xue, Jing J; Li, Hong H; Sun, Yongwei Y
Publication Date: 2021-01-04

Variant appearance in text: BRDT: 1853G>A; R618H
PubMed Link: 33397441
Variant Present in the following documents:
  • 13059_2020_2222_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; MaciÄ…g, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: rs140949811
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs140949811
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page