Varaico: Literature-Extracted Genetic Variants

Gene:IRX3
Variant:p.D247E

IRX3

69 papers

RefSeq Summary

IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family ...

Pfam Domains

Homeobox_KNaa 145–184UCSCHomeobox KN domain

Gene Aliases

HGNC Name

iroquois homeobox 3

HGNC Alias Symbol

IRX-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024336.3
p.D247E
c.741C>G
Surrounding Variants
1 paper
NM_024336.3
p.D247E
c.741C>A
1 paper
NM_024336.3
p.D249E
c.747C>G
1 paper
NM_024336.3
p.D249E
c.747C>A
1 paper
NM_024336.3
p.E250D
c.750G>T
1 paper
NM_024336.3
p.E250D
c.750G>C
1 paper
NM_024336.3
p.D251N
c.751G>A
1 paper
NM_024336.3
p.E243Q
c.727G>C
1 paper
NM_024336.3
p.G242D
c.725G>A
1 paper
NM_024336.3
p.T240A
c.718A>G
2 papers
NM_024336.3
p.E238A
c.713A>C
1 paper
NM_024336.3
p.E237G
c.710A>G
1 paper
NM_024336.3
p.E236delFs
c.706delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."