MVK c.1163G>A ;(p.R388Q)

Variant ID: 12-110034354-G-A

NM_000431.2(MVK):c.1163G>A;(p.R388Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019

Variant appearance in text: MVK: 1163G>A; Arg388Gln; rs886048934
PubMed Link: 32082075
Variant Present in the following documents:
  • Main text
  • MI2019-3293145.pdf
View BVdb publication page



Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: MVK: Arg388Gln
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page