Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.K88E

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_153427.3
p.K88E
c.262A>G
NM_001204399.1
p.K141E
c.421A>G
Surrounding Variants
3 papers
NM_153427.3
p.F87L
c.261C>G
2 papers
NM_153427.3
p.F87L
c.261C>A
1 paper
NM_001204399.1
p.K88R
c.263A>G
2 papers
NM_153427.3
p.F87L
c.259T>C
1 paper
NM_153427.3
p.N89insFs
c.265_266insC
1 paper
NM_001204399.1
p.W86C
c.258G>T
1 paper
NM_001204399.1
p.W86C
c.258G>C
3 papers
NM_153427.3
p.W86*
c.258G>A
NM_000325.6
p.W139*
c.417G>A
1 paper
NM_000325.6
p.W139S
c.416G>C
3 papers
NM_153427.3
p.W86*
c.257G>A
NM_000325.6
p.W139*
c.416G>A
2 papers
NM_001204399.1
p.R90C
c.268C>T
3 papers
NM_153427.3
p.R90P
c.269G>C
NM_000325.6
p.R143P
c.428G>C
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