RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on June 03, 2013

PhenomeR

SciNetS

RNASEH2A

View ALL

5 unique mutation(s) annotated from 2 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	Substitution	g.169G>A	c.109G>A	-	p.Gly37Ser	Missense defects	Direct sequencing	Crow YJ et al., 2006	Click here
2	Substitution	g.3710C>T	c.556C>T	-	p.Arg186Trp	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
3	Substitution	g.6536G>A	c.704G>A	-	p.Arg235Gln	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
4	Duplications	g.6548_6549dupGC	c.716_717dupGC	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
5	Substitution	g.6551C>T	c.719C>T	-	p.Thr240Met	Missense defects	Direct sequencing	Rice G et al., 2007	Click here

  Unique visitors: 21532
  (since May 2009)
  Users online: 1

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

Comments/Help Disclaimer