Bibliome.ai browser hg19
Search
About
Stats
FAQ
FLG c.5184G>T ;(p.E1728D)
Variant ID: 1-152282178-C-A
NM_002016.1(
FLG
):c.5184G>T;(p.E1728D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.
Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17
Variant appearance in text: FLG: E1728D
PubMed Link:
36396655
Variant Present in the following documents:
41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page
Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.
Scientific Reports
Grant, Adam D AD; Vail, Paris P; Padi, Megha M; Witkiewicz, Agnieszka K AK; Knudsen, Erik S ES
Publication Date: 2019-09-04
Variant appearance in text: FLG: E1728D
PubMed Link:
31484939
Variant Present in the following documents:
41598_2019_48967_MOESM2_ESM.xls, sheet 1
View BVdb publication page