Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.N222_S223insFs

PITX2

303 papers

RefSeq Summary

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hy...

Pfam Domains

Homeodomainaa 86–142UCSCHomeodomain
OARaa 275–293UCSCOAR motif

Gene Aliases

HGNC Name

paired like homeodomain 2

HGNC Previous Symbols

IRID2; IHG2; RIEG; RIEG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000325.6
p.N222_S223insFs
c.666_667insA
Surrounding Variants
1 paper
NM_153427.3
p.N169fs
c.505_506fs
1 paper
NM_000325.6
p.S223_I224insFs
c.669_670ins8
1 paper
NM_000325.6
p.P221H
c.662C>A
1 paper
NM_000325.6
p.P221_I224insFs
c.663_670dup8
1 paper
NM_000325.6
p.I224T
c.671T>C
1 paper
NM_000325.6
p.P221S
c.661C>T
1 paper
NM_000325.6
p.P221T
c.661C>A
1 paper
NM_153427.3
p.P168fs
c.502_503fs
2 papers
NM_153427.3
p.P167insFs
c.500dupC
2 papers
NM_000325.6
p.P220L
c.659C>T
1 paper
NM_000325.6
p.S225L
c.674C>T
2 papers
NM_000325.6
p.S214_S219insFs
c.640_656dup17
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."