Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.E150D

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_001204397.2
p.E150D
c.450G>C
Surrounding Variants
1 paper
NM_153427.3
p.L105V
c.313C>G
1 paper
NM_000325.6
p.E157V
c.470A>T
1 paper
NM_000325.6
p.E157_L158insGGT
c.469_473ins9
1 paper
NM_000325.6
p.L158L
c.474A>G
2 papers
NM_000325.6
p.A156insFs
c.467_468insT
2 papers
NM_153426.3
p.C152Y
c.455G>A
1 paper
NM_000325.6
p.C159W
c.477C>G
1 paper
NM_000325.6
p.C159delFs
c.475_476delCA
1 paper
NM_000325.6
p.Q155R
c.464A>G
7 papers
NM_000325.6
p.Q155*
c.463C>T
NM_153427.3
p.Q102*
c.304C>T
2 papers
NM_000325.6
p.N161D
c.481A>G
2 papers
NM_153427.3
p.Q101*
c.301C>T
NM_000325.6
p.Q154*
c.460C>T
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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."