Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.N254I

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.N254I
c.761A>T
Surrounding Variants
1 paper
NM_000325.6
p.N253I
c.758A>T
2 papers
NM_000325.6
p.L252delFs
c.754_755delAA
1 paper
NM_000325.6
p.S256G
c.766A>G
2 papers
NM_000325.6
p.L252fs
c.754_755fs
1 paper
NM_000325.6
p.S257G
c.769A>G
1 paper
NM_000325.6
p.N250_N251insFs
c.750_751ins10
1 paper
NM_153427.3
p.P205delFs
c.613delG
1 paper
NM_000325.6
p.S259*
c.776C>A
1 paper
NM_000325.6
p.L260R
c.779T>G
1 paper
NM_000325.6
p.L260L
c.780G>A
1 paper
NM_000325.6
p.S262P
c.784T>C
1 paper
NM_000325.6
p.S262fs
c.784_785fs
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."