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FLG c.9658G>C ;(p.D3220H)
Variant ID: 1-152277704-C-G
NM_002016.1(
FLG
):c.9658G>C;(p.D3220H)
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:
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: FLG: D3220H
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 46
View BVdb publication page
An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.
Journal Of Korean Medical Science
Park, Kui Young KY; Li, Kapsok K; Seok, Joon J; Seo, Seong Jun SJ
Publication Date: 2016-07
Variant appearance in text: FLG: 9658G>C; D3220H
PubMed Link:
27366014
Variant Present in the following documents:
jkms-31-1136-s001.pdf
jkms-31-1136.pdf
View BVdb publication page
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.
Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12
Variant appearance in text: FLG: D3220H; rs200240824
PubMed Link:
27001614
Variant Present in the following documents:
NIHMS753666-supplement-2.xlsx, sheet 11
View BVdb publication page