Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.T192insFs

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.T192insFs
c.574_575insT
Surrounding Variants
1 paper
NM_153427.3
p.G137_L138del2
c.409_413del6
1 paper
NM_000325.6
p.L191P
c.572T>C
1 paper
NM_000325.6
p.T192delFs
c.575_576delTG
2 papers
NM_000325.6
p.N185_T192delFs
c.555_576del22
1 paper
NM_153427.3
p.G137V
c.410G>T
1 paper
NM_000325.6
p.A194V
c.581C>T
3 papers
NM_000325.6
p.A188T
c.562G>A
2 papers
NM_153427.3
p.W133*
c.399G>A
2 papers
NM_153427.3
p.W133*
c.398G>A
1 paper
NM_000325.6
p.N185K
c.555C>A
1 paper
NM_000325.6
p.T198Fs
c.592_593delinsCFs
2 papers
NM_000325.6
p.G180_N184delFs
c.539_551del13
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