Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.I59F

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.I59F
c.175A>T
Surrounding Variants
1 paper
NM_000325.6
p.T58T
c.174C>G
1 paper
NM_000325.6
p.H57_I59del0
c.169_177del9
1 paper
NM_000325.6
p.H57H
c.171C>T
1 paper
NM_000325.6
p.H57Q
c.171C>G
1 paper
NM_000325.6
p.H57Q
c.171C>A
2 papers
NM_000325.6
p.V56fs
c.166_167fs
1 paper
NM_000325.6
p.D61ins3
c.182_183ins9
2 papers
NM_000325.6
p.V56insFs
c.166dupG
2 papers
NM_000325.6
p.V56E
c.167T>A
1 paper
NM_000325.6
p.D61E
c.183C>G
1 paper
NM_000325.6
p.T62I
c.185C>T
1 paper
NM_000325.6
p.E55V
c.164A>T
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