Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.P202fs

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
1 paper
NM_000325.6
p.P202fs
c.604_605fs
Surrounding Variants
2 papers
NM_000325.6
p.P202H
c.605C>A
1 paper
NM_000325.6
p.P202delFs
c.605delG
1 paper
NM_000325.6
p.F203delFs
c.609delG
1 paper
NM_000325.6
p.K199_F204delFs
c.595_610del16
1 paper
NM_153426.3
p.T191_K192delFs
c.573_574delTG
1 paper
NM_000325.6
p.N205D
c.613A>G
1 paper
NM_153427.3
p.K146_F151delFs
c.437_453del17
1 paper
NM_000325.6
p.T198Fs
c.592_593delinsCFs
1 paper
NM_000325.6
p.S200_S206delFs
c.599_617del19
10 papers
NM_000325.6
p.M207V
c.619A>G
NM_001204397.2
p.M200V
c.598A>G
1 paper
NM_000325.6
p.A194V
c.581C>T
1 paper
NM_000325.6
p.N210_P211ins1
c.630_631insAAC
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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."