Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.A126V

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.A126V
c.377C>T
Surrounding Variants
2 papers
NM_153426.3
p.A119delFs
c.356delG
NM_000325.6
p.A126delFs
c.377delG
1 paper
NM_153427.3
p.A73T
c.217G>A
1 paper
NM_001204399.1
p.V74M
c.220G>A
1 paper
NM_000325.6
p.V127E
c.380T>A
1 paper
NM_000325.6
p.A126_V127del0
c.376_381del6
1 paper
NM_000325.6
p.W128*
c.383G>A
1 paper
NM_153427.3
p.E71*
c.211G>T
1 paper
NM_000325.6
p.E124K
c.370G>A
5 papers
NM_000325.6
p.T129S
c.385A>T
1 paper
NM_000325.6
p.T129P
c.385A>C
5 papers
NM_000325.6
p.T129S
c.386C>G
2 papers
NM_000325.6
p.E123insFs
c.368_369insC
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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."