Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.N108T

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.N108T
c.323A>C
Surrounding Variants
1 paper
NM_000325.6
p.K160_N161insFs
c.478_482dup5
2 papers
NM_000325.6
p.N161D
c.481A>G
1 paper
NM_000325.6
p.G162G
c.486C>G
1 paper
NM_000325.6
p.C159W
c.477C>G
1 paper
NM_000325.6
p.C159delFs
c.475_476delCA
2 papers
NM_153426.3
p.C152Y
c.455G>A
1 paper
NM_000325.6
p.L158L
c.474A>G
1 paper
NM_153427.3
p.L105V
c.313C>G
1 paper
NM_001204397.2
p.E150D
c.450G>C
1 paper
NM_000325.6
p.E157V
c.470A>T
1 paper
NM_000325.6
p.E157_L158insGGT
c.469_473ins9
2 papers
NM_000325.6
p.A156insFs
c.467_468insT
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