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.




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