Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.N210_P211insFs

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
4 papers
NM_000325.6
p.N210_P211insFs
c.630_631insCG
Surrounding Variants
1 paper
NM_000325.6
p.N210_P211ins1
c.630_631insAAC
1 paper
NM_000325.6
p.P211P
c.633C>A
6 papers
NM_153427.3
p.L159fs
c.475_476fs
NM_153426.3
p.L205fs
c.613_614fs
NM_000325.6
p.L212fs
c.634_635fs
1 paper
NM_000325.6
p.P211insFs
c.632_633dupCC
1 paper
NM_153426.3
p.L205delFs
c.613delG
1 paper
NM_153426.3
p.L205delFs
c.614delA
5 papers
NM_153427.3
p.L159delFs
c.475_476delAG
NM_000325.6
p.L212delFs
c.634_635delAG
1 paper
NM_000325.6
p.P211_L212del2
c.631_635del6
4 papers
NM_153427.3
p.Q162*
c.484C>T
NM_153426.3
p.Q208*
c.622C>T
NM_000325.6
p.Q215*
c.643C>T
10 papers
NM_000325.6
p.M207V
c.619A>G
NM_001204397.2
p.M200V
c.598A>G
1 paper
NM_000325.6
p.S200_S206delFs
c.599_617del19
2 papers
NM_000325.6
p.Q215insFs
c.644dupA
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