Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.L117fs

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.L117fs
c.349_350fs
Surrounding Variants
1 paper
NM_000325.6
p.L170F
c.508C>T
2 papers
NM_153427.3
p.G116delFs
c.348delC
2 papers
NM_000325.6
p.G169A
c.506G>C
1 paper
NM_000325.6
p.M171insFs
c.512_513insGC
1 paper
NM_153427.3
p.N115T
c.344A>C
2 papers
NM_153427.3
p.N115fs
c.343_344fs
4 papers
NM_153427.3
p.Q119fs
c.355_356fs
NM_001204399.1
p.Q172fs
c.514_515fs
2 papers
NM_153427.3
p.F114insFs
c.341dupT
NM_000325.6
p.F167insFs
c.500dupT
1 paper
NM_000325.6
p.F167insFs
c.500_501insC
6 papers
NM_000325.6
p.Q172delFs
c.515delT
NM_153427.3
p.Q119delFs
c.356delT
1 paper
NM_153426.3
p.Q159delFs
c.475_476delTG
1 paper
NM_000325.6
p.M171_P173del0
c.513_518del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."