Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R99delFs

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_153427.3
p.R99delFs
c.296delC
Surrounding Variants
1 paper
NM_153427.3
p.R99P
c.296G>C
1 paper
NM_000325.6
p.R152H
c.455G>A
5 papers
NM_000325.6
p.N153D
c.457A>G
1 paper
NM_000325.6
p.N153H
c.457A>C
3 papers
NM_000325.6
p.R152C
c.454C>T
1 paper
NM_153427.3
p.E98insFs
c.293_294dupAG
1 paper
NM_153427.3
p.R99S
c.295C>A
1 paper
NM_001204399.1
p.R99fs
c.295_296fs
2 papers
NM_000325.6
p.K146_E151delFs
c.437_453del17
1 paper
NM_000325.6
p.E151D
c.453G>T
2 papers
NM_153427.3
p.Q101*
c.301C>T
NM_000325.6
p.Q154*
c.460C>T
1 paper
NM_000325.6
p.Q154K
c.460C>A
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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."