Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.P309_Q317delFs

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.P309_Q317delFs
c.925_949del25
Surrounding Variants
2 papers
NM_000325.6
p.Q317*
c.949C>T
1 paper
NM_153427.3
p.Y265_A266insC
c.793_797ins3
1 paper
NM_000325.6
p.Y318N
c.952T>A
1 paper
NM_000325.6
p.C316G
c.946T>G
1 paper
NM_000325.6
p.L313_S314insA
c.937_941ins3
1 paper
NM_000325.6
p.V324L
c.970G>T
1 paper
NM_000325.6
p.V324L
c.970G>C
1 paper
NM_000325.6
p.V324E
c.971T>A
1 paper
NM_000325.6
p.N308D
c.922A>G
1 paper
NM_153427.3
p.Q254*
c.760C>T
1 paper
NM_000325.6
p.V306_Q307insAG
c.916_920ins6
1 paper
NM_000325.6
p.A304delFs
c.912delG
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