RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on June 03, 2013

PhenomeR

SciNetS

NCF4

View ALL

2 unique mutation(s) annotated from 1 PubMed(s)

Sl.No	Mutation type	Genomic level change	CDS level change	RNA level change	Protein level change	Mutation effects	Expt. name	PubMed	Mutation viewer
1	Duplications	g.3957_3966dupAAGGAGGATC	c.143_152dupAAGGAGGATC	r.143_152dupaaggaggauc	p.Lys52Argfs	Frameshift	Direct sequencing	Matute JD et al., 2009	Click here
2	Substitution	g.6447G>A	c.314G>A	r.314g>a	p.Arg105Gln	Missense defects	Direct sequencing	Matute JD et al., 2009	Click here

  Unique visitors: 21518
  (since May 2009)
  Users online: 1

This is a joint Project between RIKEN, Japan and Institute of Bioinformatics, India.

Comments/Help Disclaimer