Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.G240D

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.G240D
c.719G>A
Surrounding Variants
2 papers
NM_000325.6
p.G240R
c.718G>C
1 paper
NM_000325.6
p.G240delFs
c.718_719delCC
1 paper
NM_000325.6
p.V241I
c.721G>A
1 paper
NM_153427.3
p.T186fs
c.556_557fs
1 paper
NM_000325.6
p.P242S
c.724C>T
1 paper
NM_153427.3
p.P189L
c.566C>T
2 papers
NM_153427.3
p.M180_A184delFs
c.539_551del13
1 paper
NM_000325.6
p.A237V
c.710C>T
1 paper
NM_000325.6
p.A237insFs
c.709_710insC
3 papers
NM_000325.6
p.S236_S244delFs
c.708_730del23
2 papers
NM_153427.3
p.S191_S192delFs
c.573_574delTG
NM_000325.6
p.S244_S245delFs
c.732_733delTG
NM_153426.3
p.S237_S238delFs
c.711_712delTG
2 papers
NM_153427.3
p.V185_S192delFs
c.555_576del22
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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."