Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.L293_K294insC

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.L293_K294insC
c.877_881ins3
Surrounding Variants
1 paper
NM_153427.3
p.L240fs
c.718_719fs
1 paper
NM_153427.3
p.L240L
c.718C>T
1 paper
NM_000325.6
p.T283_L291insFs
c.848_872dup25
1 paper
NM_153427.3
p.S237fs
c.709_710fs
1 paper
NM_153427.3
p.A236_Q244delFs
c.708_730del23
3 papers
NM_000325.6
p.Q297H
c.891G>T
3 papers
NM_000325.6
p.Q297H
c.891G>C
1 paper
NM_000325.6
p.L288L
c.862C>T
1 paper
NM_000325.6
p.H298N
c.892C>A
1 paper
NM_000325.6
p.H298R
c.893A>G
2 papers
NM_000325.6
p.S299C
c.896C>G
1 paper
NM_153427.3
p.S233L
c.698C>T
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