Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R143_R144del1

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_000325.6
p.R143_R144del1
c.429_431delCGA
Surrounding Variants
6 papers
NM_153427.3
p.R91P
c.272G>C
NM_000325.6
p.R144P
c.431G>C
2 papers
NM_153427.3
p.A92P
c.274G>C
4 papers
NM_153427.3
p.R91Q
c.272G>A
1 paper
NM_000325.6
p.A145T
c.433G>A
2 papers
NM_000325.6
p.R144del1
c.430_431delCCG
1 paper
NM_001204399.1
p.R91W
c.271C>T
2 papers
NM_153427.3
p.R91G
c.271C>G
3 papers
NM_153427.3
p.R90P
c.269G>C
NM_000325.6
p.R143P
c.428G>C
1 paper
NM_153427.3
p.K93fs
c.277_278fs
2 papers
NM_001204399.1
p.R90C
c.268C>T
1 paper
NM_153427.3
p.K93N
c.279A>T
1 paper
NM_153427.3
p.K93N
c.279A>C
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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."