SCNN1G c.*572A>G

Variant ID: 16-23227362-A-G

NM_001039.3(SCNN1G):c.*572A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs5728
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del-CFTR Homozygous Patient Populations.

Genes
Stanke, Frauke F; Becker, Tim T; Ismer, Haide Susanne HS; Dunsche, Inga I; Hedtfeld, Silke S; Kontsendorn, Julia J; Dittrich, Anna-Maria AM; Tümmler, Burkhard B
Publication Date: 2021-09-29

Variant appearance in text: rs5728
PubMed Link: 34680949
Variant Present in the following documents:
  • genes-12-01554.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs5728
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs5728
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs5728
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study.

Circulation. Cardiovascular Genetics
Zhao, Qi Q; Gu, Dongfeng D; Hixson, James E JE; Liu, De-Pei DP; Rao, Dabeeru C DC; Jaquish, Cashell E CE; Kelly, Tanika N TN; Lu, Fanghong F; Ma, Jixiang J; Mu, Jianjun J; Shimmin, Lawrence C LC; Chen, Jichun J; Mei, Hao H; Hamm, L Lee LL; He, Jiang J; ,
Publication Date: 2011-08-01

Variant appearance in text: rs5728
PubMed Link: 21562341
Variant Present in the following documents:
  • Main text
View BVdb publication page