Varaico: Literature-Extracted Genetic Variants

Gene:IRX3
Variant:p.D332E

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.D332E
c.996C>A
Surrounding Variants
1 paper
NM_024336.3
p.D332E
c.996C>G
1 paper
NM_024336.3
p.A337T
c.1009G>A
1 paper
NM_024336.3
p.V317M
c.949G>A
2 papers
NM_024336.3
p.R364C
c.1090C>T
1 paper
NM_024336.3
p.S365L
c.1094C>T
1 paper
NM_024336.3
p.P367_G368insFs
c.1101_1102insC
1 paper
NM_024336.3
p.S296G
c.886A>G
1 paper
NM_024336.3
p.A376delFs
c.1126delC
1 paper
NM_024336.3
p.A376fs
c.1126_1127fs
1 paper
NM_024336.3
p.A377V
c.1130C>T
1 paper
NM_024336.3
p.I285M
c.855T>G
2 papers
NM_024336.3
p.P380L
c.1139C>T
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