Varaico: Literature-Extracted Genetic Variants

Gene:PITX2

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
1–12 of 638 variants
18 papers
NM_000325.6
p.K88E
c.262A>G
15 papers
NM_000325.6
p.R91P
c.272G>C
10 papers
NM_000325.6
p.L54Q
c.161T>A
9 papers
NM_000325.6
p.M207V
c.619A>G
7 papers
NM_000325.6
p.R91Q
c.272G>A
6 papers
NM_153427.3
p.R62H
c.185G>A
6 papers
NM_000325.6
p.Q155*
c.463C>T
5 papers
NM_000325.6
p.S37W
c.110C>G
5 papers
NM_000325.6
p.E55*
c.163G>T
5 papers
NM_000325.6
p.T97A
c.289A>G
5 papers
NM_000325.6
p.H98Q
c.294C>G
5 papers
NM_000325.6
p.H98Q
c.294C>A
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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."