Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.P126delFs

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
2 papers
NM_153427.3
p.P126delFs
c.377delG
Surrounding Variants
2 papers
NM_000325.6
p.P179T
c.535C>A
2 papers
NM_153427.3
p.P126fs
c.376_377fs
1 paper
NM_000325.6
p.G169_M177del9
c.505_530del27
1 paper
NM_000325.6
p.S182_Y183ins9
c.544_548ins27
1 paper
NM_153427.3
p.G116_D123del8
c.346_368del24
1 paper
NM_000325.6
p.D176N
c.526G>A
1 paper
NM_153427.3
p.D122delFs
c.366delG
1 paper
NM_000325.6
p.Y183C
c.548A>G
1 paper
NM_000325.6
p.D175E
c.525C>G
2 papers
NM_153427.3
p.D122fs
c.364_365fs
1 paper
NM_000325.6
p.D175E
c.525C>A
1 paper
NM_000325.6
p.D175N
c.523G>A
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