Varaico: Literature-Extracted Genetic Variants

Gene:IRX3
Variant:p.P433S

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.P433S
c.1297C>T
Surrounding Variants
1 paper
NM_024336.3
p.L428_G429insA
c.1282_1286ins3
1 paper
NM_024336.3
p.L422P
c.1265T>C
3 papers
NM_024336.3
p.R421P
c.1262G>C
1 paper
NM_024336.3
p.P414T
c.1240C>A
1 paper
NM_024336.3
p.P412L
c.1235C>T
1 paper
NM_024336.3
p.H395Q
c.1185C>G
1 paper
NM_024336.3
p.H395Q
c.1185C>A
1 paper
NM_024336.3
p.A388_A389del0
c.1162_1167del6
1 paper
NM_024336.3
p.A388_A389insC
c.1162_1166ins3
1 paper
NM_024336.3
p.S381Y
c.1142C>A
2 papers
NM_024336.3
p.P380L
c.1139C>T
1 paper
NM_024336.3
p.A377V
c.1130C>T
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