Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.Q105*

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.Q105*
c.313C>T
Surrounding Variants
1 paper
NM_000325.6
p.Q105E
c.313C>G
1 paper
NM_000325.6
p.L104L
c.312C>T
1 paper
NM_000325.6
p.Q105L
c.314A>T
1 paper
NM_000325.6
p.Q105R
c.314A>G
2 papers
NM_153427.3
p.Q52P
c.155A>C
1 paper
NM_000325.6
p.L104F
c.310C>T
1 paper
NM_000325.6
p.Q103H
c.309G>T
1 paper
NM_000325.6
p.Q103H
c.309G>C
2 papers
NM_000325.6
p.E106D
c.318G>T
NM_001204399.1
p.E53D
c.159G>T
2 papers
NM_001204399.1
p.E53D
c.159G>C
NM_000325.6
p.E106D
c.318G>C
2 papers
NM_000325.6
p.E106delFs
c.317delT
1 paper
NM_000325.6
p.Q103R
c.308A>G
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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."