Bibliome.ai browser hg19
Search
About
Stats
FAQ
VWF c.3868G>A ;(p.E1290K)
Variant ID: 12-6128716-C-T
NM_000552.3(
VWF
):c.3868G>A;(p.E1290K)
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:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: VWF: E1290K
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs138900040
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Group association test using a hidden Markov model.
Biostatistics (Oxford, England)
Cheng, Yichen Y; Dai, James Y JY; Kooperberg, Charles C
Publication Date: 2016-04
Variant appearance in text: VWF: Glu1290Lys; rs138900040
PubMed Link:
26420797
Variant Present in the following documents:
Main text
View BVdb publication page