Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.K63I

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_001204398.1
p.K63I
c.188A>T
Surrounding Variants
3 papers
NM_000325.6
p.D71Y
c.211G>T
1 paper
NM_000325.6
p.E69V
c.206A>T
1 paper
NM_000325.6
p.D71delFs
c.211_212delTC
1 paper
NM_153427.3
p.E16Splc
c.47-1G>T
2 papers
NM_153427.3
p.E16Splc
c.47-1G>C
NM_000325.6
p.E69Q
c.205G>C
1 paper
NM_153427.3
p.E16Splc
c.47-1G>A
1 paper
NM_000325.6
p.K72R
c.215A>G
1 paper
NM_000325.6
p.S73fs
c.217_218fs
1 paper
NM_000325.6
p.S73T
c.218G>C
1 paper
NM_000325.6
p.S73_Q74insFs
c.219_220insG
3 papers
NM_153426.3
p.Q67*
c.199C>T
NM_153427.3
p.Q21*
c.61C>T
1 paper
NM_000325.6
p.Q74H
c.222G>T
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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."