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PRNP c.391G>A ;(p.G131R)
Variant ID: 20-4680257-G-A
NM_000311.3(
PRNP
):c.391G>A;(p.G131R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A novel PRNP-G131R variant associated with familial prion disease.
Neurology. Genetics
Alshaikh, Jumana T JT; Qin, Kefeng K; Zhao, Lili L; Mastrianni, James A JA
Publication Date: 2020-08
Variant appearance in text: PRNP: 391G>A
PubMed Link:
32637633
Variant Present in the following documents:
Main text
View BVdb publication page
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Cells
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2020-06-17
Variant appearance in text: N/A
PubMed Link:
32560489
Variant Present in the following documents:
View BVdb publication page
Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.
Aging
Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B
Publication Date: 2019-06-29
Variant appearance in text: PRNP: 391G>A
PubMed Link:
31257224
Variant Present in the following documents:
aging-11-102047-s002.xlsx, sheet 12
aging-11-102047-s002.xlsx, sheet 13
aging-11-102047-s002.xlsx, sheet 11
View BVdb publication page